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{{Infobox_gene}}
{{PBB_Controls
'''Gamma-sarcoglycan''' is a [[protein]] that in humans is encoded by the ''SGCG'' [[gene]].<ref name="pmid8968757">{{cite journal | vauthors = Piccolo F, Jeanpierre M, Leturcq F, Dodé C, Azibi K, Toutain A, Merlini L, Jarre L, Navarro C, Krishnamoorthy R, Tomé FM, Urtizberea JA, Beckmann JS, Campbell KP, Kaplan JC | title = A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India | journal = Human Molecular Genetics | volume = 5 | issue = 12 | pages = 2019–22 | date = Dec 1996 | pmid = 8968757 | pmc =  | doi = 10.1093/hmg/5.12.2019 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6445| accessdate = }}</ref> The α to δ-sarcoglycans are expressed predominantly (β) or exclusively (α, γ and δ) in [[striated muscle]].<ref name="pmid7481775">{{cite journal | vauthors = Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, Bönnemann CG, Gussoni E, Denton PH, Kyriakides T, Middleton L, Hentati F, Ben Hamida M, Nonaka I, Vance JM, Kunkel LM, Ozawa E | title = Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy | journal = Science | volume = 270 | issue = 5237 | pages = 819–22 | date = Nov 1995 | pmid = 7481775 | doi=10.1126/science.270.5237.819}}</ref> A [[mutation]] in any of the [[sarcoglycan]] genes may lead to a secondary deficiency of the other sarcoglycan proteins, presumably due to destabilisation of the sarcoglycan complex.<ref name="pmid10714584">{{cite journal | vauthors = Nowak KJ, Walsh P, Jacob RL, Johnsen RD, Peverall J, McNally EM, Wilton SD, Kakulas BA, Laing NG | title = Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion | journal = Neuromuscular Disorders | volume = 10 | issue = 2 | pages = 100–7 | date = Feb 2000 | pmid = 10714584 | doi=10.1016/s0960-8966(99)00063-2}}</ref>  The disease-causing mutations in the α to δ genes cause disruptions within the [[dystrophin-associated protein]] (DAP) complex in the [[muscle cell]] membrane.<ref name="pmid8968750">{{cite journal | vauthors = Vainzof M, Passos-Bueno MR, Canovas M, Moreira ES, Pavanello RC, Marie SK, Anderson LV, Bonnemann CG, McNally EM, Nigro V, Kunkel LM, Zatz M | title = The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies | journal = Human Molecular Genetics | volume = 5 | issue = 12 | pages = 1963–9 | date = Dec 1996 | pmid = 8968750 | doi=10.1093/hmg/5.12.1963}}</ref> The transmembrane components of the DAP complex link the [[cytoskeleton]] to the [[extracellular matrix]] in adult [[muscle fibres]],<ref name="pmid9405466">{{cite journal | vauthors = Ettinger AJ, Feng G, Sanes JR | title = epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D | journal = The Journal of Biological Chemistry | volume = 272 | issue = 51 | pages = 32534–8 | date = Dec 1997 | pmid = 9405466 | doi=10.1074/jbc.272.51.32534}}</ref> and are essential for the preservation of the integrity of the muscle cell membrane.<ref name="pmid9856984">{{cite journal | vauthors = Holt KH, Campbell KP | title = Assembly of the sarcoglycan complex. Insights for muscular dystrophy | journal = The Journal of Biological Chemistry | volume = 273 | issue = 52 | pages = 34667–70 | date = Dec 1998 | pmid = 9856984 | doi=10.1074/jbc.273.52.34667}}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
| HGNCid = 10809
| Symbol = SGCG
| AltSymbols =; A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM; MGC130048; SCARMD2; SCG3; TYPE
| OMIM = 608896
| ECnumber = 
| Homologene = 194
| MGIid = 1346524
| GeneAtlas_image1 = PBB_GE_SGCG_207302_at_tn.png
| Function = {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005856 |text = cytoskeleton}} {{GNF_GO|id=GO:0005886 |text = plasma membrane}} {{GNF_GO|id=GO:0016012 |text = sarcoglycan complex}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0007010 |text = cytoskeleton organization and biogenesis}} {{GNF_GO|id=GO:0007517 |text = muscle development}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 6445
    | Hs_Ensembl = ENSG00000102683
    | Hs_RefseqProtein = NP_000222
    | Hs_RefseqmRNA = NM_000231
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 13
    | Hs_GenLoc_start = 22653091
    | Hs_GenLoc_end = 22797304
    | Hs_Uniprot = Q13326
    | Mm_EntrezGene = 24053
    | Mm_Ensembl = ENSMUSG00000035296
    | Mm_RefseqmRNA = NM_011892
    | Mm_RefseqProtein = NP_036022
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 14
    | Mm_GenLoc_start = 60175169
    | Mm_GenLoc_end = 60212543
    | Mm_Uniprot = Q9EQ83
  }}
}}
'''Sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)''', also known as '''SGCG''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6445| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
Gamma-sarcoglycan is one of several sarcolemmal transmembrane glycoproteins that interact with [[dystrophin]], probably to provide a link between the membrane associated cytoskeleton and the extracellular matrix.  Defects in the protein can lead to early onset autosomal recessive muscular dystrophy, in particular [[limb-girdle muscular dystrophy]], type 2C (LGMD2C).<ref name="entrez" />
{{PBB_Summary
| section_title =
| summary_text = Gamma-sarcoglycan is one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin, probably to provide a link between the membrane associated cytoskeleton and the extracellular matrix.  Defects in the protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C).<ref name="entrez">{{cite web | title = Entrez Gene: SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6445| accessdate = }}</ref>
}}


==References==
==Structure==
{{reflist|2}}
 
==Further reading==
===Gene===
{{refbegin | 2}}
Human SGCG gene maps to [[chromosome 13]] at q12, spans over 100 kb of DNA and includes 8 [[exons]].<ref name="pmid8923014">{{cite journal | vauthors = McNally EM, Duggan D, Gorospe JR, Bönnemann CG, Fanin M, Pegoraro E, Lidov HG, Noguchi S, Ozawa E, Finkel RS, Cruse RP, Angelini C, Kunkel LM, Hoffman EP | title = Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy | journal = Human Molecular Genetics | volume = 5 | issue = 11 | pages = 1841–7 | date = Nov 1996 | pmid = 8923014 | doi=10.1093/hmg/5.11.1841}}</ref>
{{PBB_Further_reading
 
| citations =
===Protein===
*{{cite journal  | author=Noguchi S, McNally EM, Ben Othmane K, ''et al.'' |title=Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. |journal=Science |volume=270 |issue= 5237 |pages= 819-22 |year= 1995 |pmid= 7481775 |doi= }}
Gamma-sarcoglycan is a type II [[transmembrane protein]] and consists of 291 [[amino acids]]. It has a 35 amino acid intracellular [[N-terminus|N-terminal region]], a 25 amino acid single transmembrane domain, and a 231 amino acid extra-cellular [[C-terminus]].<ref name="pmid10714584"/>
*{{cite journal  | author=Ben Othmane K, Speer MC, Stauffer J, ''et al.'' |title=Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C) |journal=Am. J. Hum. Genet. |volume=57 |issue= 3 |pages= 732-4 |year= 1995 |pmid= 7668303 |doi=  }}
 
*{{cite journal  | author=Jorde LB, Watkins WS, Viskochil D, ''et al.'' |title=Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mapping. |journal=Am. J. Hum. Genet. |volume=53 |issue= 5 |pages= 1038-50 |year= 1993 |pmid= 8105688 |doi= }}
==Clinical significance==
*{{cite journal  | author=Jung D, Leturcq F, Sunada Y, ''et al.'' |title=Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12. |journal=FEBS Lett. |volume=381 |issue= 1-2 |pages= 15-20 |year= 1996 |pmid= 8641426 |doi= }}
[[Sarcoglycanopathies]] are autosomal recessive [[Limb-girdle muscular dystrophy|limb girdle muscular dystrophies]] (LGMDs) caused by mutations in any of the four sarcoglycan genes: α (LGMD2D), β (LGMD2E), γ (LGMD2C) and δ (LGMD2F).<ref name="pmid7481775"/> Severe childhood autosomal recessive muscular dystrophy (SCARMD) is a progressive muscle-wasting disorder that segregates with microsatellite markers at γ-sarcoglycan gene. Mutations in the γ-sarcoglycan gene were first described in the [[Maghreb]] countries of North Africa,<ref name="pmid8071965">{{cite journal | vauthors = el Kerch F, Sefiani A, Azibi K, Boutaleb N, Yahyaoui M, Bentahila A, Vinet MC, Leturcq F, Bachner L, Beckmann J | title = Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north Africa | journal = Journal of Medical Genetics | volume = 31 | issue = 4 | pages = 342–3 | date = Apr 1994 | pmid = 8071965 | doi=10.1136/jmg.31.4.342 | pmc=1049813}}</ref> where γ-sarcoglycanopathy has a higher than usual incidence. One common mutation, Δ-521T, which causes a severe phenotype, occurs both in the Maghreb population and in other countries.<ref name="pmid8923014"/> A Cys283Tyr mutation has been identified in the [[Romani people|Gypsy]] population causing a severe phenotype and a Leu193Ser mutation which causes a mild phenotype.<ref name="pmid8968757"/><ref name="pmid9673983">{{cite journal | vauthors = van der Kooi AJ, de Visser M, van Meegen M, Ginjaar HB, van Essen AJ, Jennekens FG, Jongen PJ, Leschot NJ, Bolhuis PA | title = A novel gamma-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy | journal = Neuromuscular Disorders | volume = 8 | issue = 5 | pages = 305–8 | date = Jun 1998 | pmid = 9673983 | doi=10.1016/s0960-8966(98)00040-6}}</ref>
*{{cite journal  | author=McNally EM, Passos-Bueno MR, Bönnemann CG, ''et al.'' |title=Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation. |journal=Am. J. Hum. Genet. |volume=59 |issue= 5 |pages= 1040-7 |year= 1996 |pmid= 8900232 |doi= }}
 
*{{cite journal | author=McNally EM, Duggan D, Gorospe JR, ''et al.'' |title=Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy. |journal=Hum. Mol. Genet. |volume=5 |issue= 11 |pages= 1841-7 |year= 1997 |pmid= 8923014 |doi= }}
== Interactions ==
*{{cite journal  | author=Piccolo F, Jeanpierre M, Leturcq F, ''et al.'' |title=A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India. |journal=Hum. Mol. Genet. |volume=5 |issue= 12 |pages= 2019-22 |year= 1997 |pmid= 8968757 |doi= }}
 
*{{cite journal | author=Chan YM, Bönnemann CG, Lidov HG, Kunkel LM |title=Molecular organization of sarcoglycan complex in mouse myotubes in culture. |journal=J. Cell Biol. |volume=143 |issue= 7 |pages= 2033-44 |year= 1999 |pmid= 9864373 |doi=  }}
SGCG has been shown to [[Protein-protein interaction|interact]] with [[FLNC (gene)|FLNC]].<ref name=pmid14506720>{{cite journal | vauthors = Guyon JR, Kudryashova E, Potts A, Dalkilic I, Brosius MA, Thompson TG, Beckmann JS, Kunkel LM, Spencer MJ | title = Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans | language = | journal = Muscle Nerve | volume = 28 | issue = 4 | pages = 472–83 | date = October 2003 | pmid = 14506720 | doi = 10.1002/mus.10465 }}</ref><ref name=pmid10629222>{{cite journal | vauthors = Thompson TG, Chan YM, Hack AA, Brosius M, Rajala M, Lidov HG, McNally EM, Watkins S, Kunkel LM | title = Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein | language =  | journal = J. Cell Biol. | volume = 148 | issue = 1 | pages = 115–26 | date = January 2000 | pmid = 10629222 | pmc = 3207142 | doi = 10.1083/jcb.148.1.115 }}</ref>
*{{cite journal | author=Thompson TG, Chan YM, Hack AA, ''et al.'' |title=Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein. |journal=J. Cell Biol. |volume=148 |issue= 1 |pages= 115-26 |year= 2000 |pmid= 10629222 |doi=  }}
 
*{{cite journal | author=Nowak KJ, Walsh P, Jacob RL, ''et al.'' |title=Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion. |journal=Neuromuscul. Disord. |volume=10 |issue= 2 |pages= 100-7 |year= 2000 |pmid= 10714584 |doi= }}
== References ==
*{{cite journal | author=Yoshida M, Hama H, Ishikawa-Sakurai M, ''et al.'' |title=Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy. |journal=Hum. Mol. Genet. |volume=9 |issue= 7 |pages= 1033-40 |year= 2000 |pmid= 10767327 |doi=  }}
{{reflist|33em}}
*{{cite journal | author=Crosbie RH, Lim LE, Moore SA, ''et al.'' |title=Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions. |journal=Hum. Mol. Genet. |volume=9 |issue= 13 |pages= 2019-27 |year= 2000 |pmid= 10942431 |doi= }}
 
*{{cite journal | author=Barresi R, Moore SA, Stolle CA, ''et al.'' |title=Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex. |journal=J. Biol. Chem. |volume=275 |issue= 49 |pages= 38554-60 |year= 2001 |pmid= 10993904 |doi= 10.1074/jbc.M007799200 }}
== Further reading ==
*{{cite journal | author=Wheeler MT, Zarnegar S, McNally EM |title=Zeta-sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy. |journal=Hum. Mol. Genet. |volume=11 |issue= 18 |pages= 2147-54 |year= 2003 |pmid= 12189167 |doi= }}
{{refbegin|33em}}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
* {{cite journal | vauthors = Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, Bönnemann CG, Gussoni E, Denton PH, Kyriakides T, Middleton L, Hentati F, Ben Hamida M, Nonaka I, Vance JM, Kunkel LM, Ozawa E | title = Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. | journal = Science | volume = 270 | issue = 5237 | pages = 819–22 | year = 1995 | pmid = 7481775 | doi = 10.1126/science.270.5237.819 }}
*{{cite journal | author=Vermeer S, Verrips A, Willemsen MA, ''et al.'' |title=Novel mutations in three patients with LGMD2C with phenotypic differences. |journal=Pediatr. Neurol. |volume=30 |issue= 4 |pages= 291-4 |year= 2004 |pmid= 15087111 |doi= 10.1016/j.pediatrneurol.2003.11.006 }}
* {{cite journal | vauthors = Ben Othmane K, Speer MC, Stauffer J, Blel S, Middleton L, Ben Hamida C, Etribi A, Loeb D, Hentati F, Roses AD | title = Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C) | journal = Am. J. Hum. Genet. | volume = 57 | issue = 3 | pages = 732–4 | year = 1995 | pmid = 7668303 | pmc = 1801260 | doi =  }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
* {{cite journal | vauthors = Jorde LB, Watkins WS, Viskochil D, O'Connell P, Ward K | title = Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mapping. | journal = Am. J. Hum. Genet. | volume = 53 | issue = 5 | pages = 1038–50 | year = 1993 | pmid = 8105688 | pmc = 1682302 | doi =  }}
*{{cite journal | author=White SJ, Uitte de Willige S, Verbove D, ''et al.'' |title=Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis. |journal=Hum. Mutat. |volume=26 |issue= 1 |pages= 59 |year= 2006 |pmid= 15954112 |doi= 10.1002/humu.9347 }}
* {{cite journal | vauthors = Jung D, Leturcq F, Sunada Y, Duclos F, Tomé FM, Moomaw C, Merlini L, Azibi K, Chaouch M, Slaughter C, Fardeau M, Kaplan JC, Campbell KP | title = Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12. | journal = FEBS Lett. | volume = 381 | issue = 1-2 | pages = 15–20 | year = 1996 | pmid = 8641426 | doi = 10.1016/0014-5793(96)00056-7 }}
*{{cite journal | author=Duncan DR, Kang PB, Rabbat JC, ''et al.'' |title=A novel mutation in two families with limb-girdle muscular dystrophy type 2C. |journal=Neurology |volume=67 |issue= 1 |pages= 167-9 |year= 2006 |pmid= 16832103 |doi= 10.1212/01.wnl.0000223600.78363.dd }}
* {{cite journal | vauthors = McNally EM, Passos-Bueno MR, Bönnemann CG, Vainzof M, de Sá Moreira E, Lidov HG, Othmane KB, Denton PH, Vance JM, Zatz M, Kunkel LM | title = Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation. | journal = Am. J. Hum. Genet. | volume = 59 | issue = 5 | pages = 1040–7 | year = 1996 | pmid = 8900232 | pmc = 1914841 | doi =  }}
*{{cite journal | author=Rafii MS, Hagiwara H, Mercado ML, ''et al.'' |title=Biglycan binds to alpha- and gamma-sarcoglycan and regulates their expression during development. |journal=J. Cell. Physiol. |volume=209 |issue= 2 |pages= 439-47 |year= 2006 |pmid= 16883602 |doi= 10.1002/jcp.20740 }}
* {{cite journal | vauthors = McNally EM, Duggan D, Gorospe JR, Bönnemann CG, Fanin M, Pegoraro E, Lidov HG, Noguchi S, Ozawa E, Finkel RS, Cruse RP, Angelini C, Kunkel LM, Hoffman EP | title = Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy. | journal = Hum. Mol. Genet. | volume = 5 | issue = 11 | pages = 1841–7 | year = 1997 | pmid = 8923014 | doi = 10.1093/hmg/5.11.1841 }}
}}
* {{cite journal | vauthors = Chan YM, Bönnemann CG, Lidov HG, Kunkel LM | title = Molecular organization of sarcoglycan complex in mouse myotubes in culture. | journal = J. Cell Biol. | volume = 143 | issue = 7 | pages = 2033–44 | year = 1999 | pmid = 9864373 | pmc = 2175228 | doi = 10.1083/jcb.143.7.2033 }}
* {{cite journal | vauthors = Thompson TG, Chan YM, Hack AA, Brosius M, Rajala M, Lidov HG, McNally EM, Watkins S, Kunkel LM | title = Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein. | journal = J. Cell Biol. | volume = 148 | issue = 1 | pages = 115–26 | year = 2000 | pmid = 10629222 | pmc = 3207142 | doi = 10.1083/jcb.148.1.115 }}
* {{cite journal | vauthors = Nowak KJ, Walsh P, Jacob RL, Johnsen RD, Peverall J, McNally EM, Wilton SD, Kakulas BA, Laing NG | title = Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion. | journal = Neuromuscul. Disord. | volume = 10 | issue = 2 | pages = 100–7 | year = 2000 | pmid = 10714584 | doi = 10.1016/S0960-8966(99)00063-2 }}
* {{cite journal | vauthors = Yoshida M, Hama H, Ishikawa-Sakurai M, Imamura M, Mizuno Y, Araishi K, Wakabayashi-Takai E, Noguchi S, Sasaoka T, Ozawa E | title = Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy. | journal = Hum. Mol. Genet. | volume = 9 | issue = 7 | pages = 1033–40 | year = 2000 | pmid = 10767327 | doi = 10.1093/hmg/9.7.1033 }}
* {{cite journal | vauthors = Crosbie RH, Lim LE, Moore SA, Hirano M, Hays AP, Maybaum SW, Collin H, Dovico SA, Stolle CA, Fardeau M, Tomé FM, Campbell KP | title = Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions. | journal = Hum. Mol. Genet. | volume = 9 | issue = 13 | pages = 2019–27 | year = 2000 | pmid = 10942431 | doi = 10.1093/hmg/9.13.2019 }}
* {{cite journal | vauthors = Barresi R, Moore SA, Stolle CA, Mendell JR, Campbell KP | title = Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex. | journal = J. Biol. Chem. | volume = 275 | issue = 49 | pages = 38554–60 | year = 2001 | pmid = 10993904 | doi = 10.1074/jbc.M007799200 }}
* {{cite journal | vauthors = Wheeler MT, Zarnegar S, McNally EM | title = Zeta-sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy. | journal = Hum. Mol. Genet. | volume = 11 | issue = 18 | pages = 2147–54 | year = 2003 | pmid = 12189167 | doi = 10.1093/hmg/11.18.2147 }}
* {{cite journal | vauthors = Vermeer S, Verrips A, Willemsen MA, ter Laak HJ, Ginjaar IB, Hamel BC | title = Novel mutations in three patients with LGMD2C with phenotypic differences. | journal = Pediatr. Neurol. | volume = 30 | issue = 4 | pages = 291–4 | year = 2004 | pmid = 15087111 | doi = 10.1016/j.pediatrneurol.2003.11.006 }}
* {{cite journal | vauthors = White SJ, Uitte de Willige S, Verbove D, Politano L, Ginjaar I, Breuning MH, den Dunnen JT | title = Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis. | journal = Hum. Mutat. | volume = 26 | issue = 1 | pages = 59 | year = 2006 | pmid = 15954112 | doi = 10.1002/humu.9347 }}
* {{cite journal | vauthors = Duncan DR, Kang PB, Rabbat JC, Briggs CE, Lidov HG, Darras BT, Kunkel LM | title = A novel mutation in two families with limb-girdle muscular dystrophy type 2C. | journal = Neurology | volume = 67 | issue = 1 | pages = 167–9 | year = 2006 | pmid = 16832103 | doi = 10.1212/01.wnl.0000223600.78363.dd }}
* {{cite journal | vauthors = Rafii MS, Hagiwara H, Mercado ML, Seo NS, Xu T, Dugan T, Owens RT, Hook M, McQuillan DJ, Young MF, Fallon JR | title = Biglycan binds to alpha- and gamma-sarcoglycan and regulates their expression during development. | journal = J. Cell. Physiol. | volume = 209 | issue = 2 | pages = 439–47 | year = 2006 | pmid = 16883602 | pmc = 2929672 | doi = 10.1002/jcp.20740 }}
{{refend}}
{{refend}}


{{protein-stub}}
== External links ==
{{WikiDoc Sources}}
* [[LOVD]] mutation database: [http://www.dmd.nl/nmdb2/?select_db=SGCG SGCG]
 
{{Muscle tissue}}

Latest revision as of 06:14, 11 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Gamma-sarcoglycan is a protein that in humans is encoded by the SGCG gene.[1][2] The α to δ-sarcoglycans are expressed predominantly (β) or exclusively (α, γ and δ) in striated muscle.[3] A mutation in any of the sarcoglycan genes may lead to a secondary deficiency of the other sarcoglycan proteins, presumably due to destabilisation of the sarcoglycan complex.[4] The disease-causing mutations in the α to δ genes cause disruptions within the dystrophin-associated protein (DAP) complex in the muscle cell membrane.[5] The transmembrane components of the DAP complex link the cytoskeleton to the extracellular matrix in adult muscle fibres,[6] and are essential for the preservation of the integrity of the muscle cell membrane.[7]

Function

Gamma-sarcoglycan is one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin, probably to provide a link between the membrane associated cytoskeleton and the extracellular matrix. Defects in the protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C).[2]

Structure

Gene

Human SGCG gene maps to chromosome 13 at q12, spans over 100 kb of DNA and includes 8 exons.[8]

Protein

Gamma-sarcoglycan is a type II transmembrane protein and consists of 291 amino acids. It has a 35 amino acid intracellular N-terminal region, a 25 amino acid single transmembrane domain, and a 231 amino acid extra-cellular C-terminus.[4]

Clinical significance

Sarcoglycanopathies are autosomal recessive limb girdle muscular dystrophies (LGMDs) caused by mutations in any of the four sarcoglycan genes: α (LGMD2D), β (LGMD2E), γ (LGMD2C) and δ (LGMD2F).[3] Severe childhood autosomal recessive muscular dystrophy (SCARMD) is a progressive muscle-wasting disorder that segregates with microsatellite markers at γ-sarcoglycan gene. Mutations in the γ-sarcoglycan gene were first described in the Maghreb countries of North Africa,[9] where γ-sarcoglycanopathy has a higher than usual incidence. One common mutation, Δ-521T, which causes a severe phenotype, occurs both in the Maghreb population and in other countries.[8] A Cys283Tyr mutation has been identified in the Gypsy population causing a severe phenotype and a Leu193Ser mutation which causes a mild phenotype.[1][10]

Interactions

SGCG has been shown to interact with FLNC.[11][12]

References

  1. ↑ 1.0 1.1 Piccolo F, Jeanpierre M, Leturcq F, Dodé C, Azibi K, Toutain A, Merlini L, Jarre L, Navarro C, Krishnamoorthy R, Tomé FM, Urtizberea JA, Beckmann JS, Campbell KP, Kaplan JC (Dec 1996). "A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India". Human Molecular Genetics. 5 (12): 2019–22. doi:10.1093/hmg/5.12.2019. PMID 8968757.
  2. ↑ 2.0 2.1 "Entrez Gene: SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)".
  3. ↑ 3.0 3.1 Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, Bönnemann CG, Gussoni E, Denton PH, Kyriakides T, Middleton L, Hentati F, Ben Hamida M, Nonaka I, Vance JM, Kunkel LM, Ozawa E (Nov 1995). "Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy". Science. 270 (5237): 819–22. doi:10.1126/science.270.5237.819. PMID 7481775.
  4. ↑ 4.0 4.1 Nowak KJ, Walsh P, Jacob RL, Johnsen RD, Peverall J, McNally EM, Wilton SD, Kakulas BA, Laing NG (Feb 2000). "Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion". Neuromuscular Disorders. 10 (2): 100–7. doi:10.1016/s0960-8966(99)00063-2. PMID 10714584.
  5. ↑ Vainzof M, Passos-Bueno MR, Canovas M, Moreira ES, Pavanello RC, Marie SK, Anderson LV, Bonnemann CG, McNally EM, Nigro V, Kunkel LM, Zatz M (Dec 1996). "The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies". Human Molecular Genetics. 5 (12): 1963–9. doi:10.1093/hmg/5.12.1963. PMID 8968750.
  6. ↑ Ettinger AJ, Feng G, Sanes JR (Dec 1997). "epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D". The Journal of Biological Chemistry. 272 (51): 32534–8. doi:10.1074/jbc.272.51.32534. PMID 9405466.
  7. ↑ Holt KH, Campbell KP (Dec 1998). "Assembly of the sarcoglycan complex. Insights for muscular dystrophy". The Journal of Biological Chemistry. 273 (52): 34667–70. doi:10.1074/jbc.273.52.34667. PMID 9856984.
  8. ↑ 8.0 8.1 McNally EM, Duggan D, Gorospe JR, Bönnemann CG, Fanin M, Pegoraro E, Lidov HG, Noguchi S, Ozawa E, Finkel RS, Cruse RP, Angelini C, Kunkel LM, Hoffman EP (Nov 1996). "Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy". Human Molecular Genetics. 5 (11): 1841–7. doi:10.1093/hmg/5.11.1841. PMID 8923014.
  9. ↑ el Kerch F, Sefiani A, Azibi K, Boutaleb N, Yahyaoui M, Bentahila A, Vinet MC, Leturcq F, Bachner L, Beckmann J (Apr 1994). "Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north Africa". Journal of Medical Genetics. 31 (4): 342–3. doi:10.1136/jmg.31.4.342. PMC 1049813. PMID 8071965.
  10. ↑ van der Kooi AJ, de Visser M, van Meegen M, Ginjaar HB, van Essen AJ, Jennekens FG, Jongen PJ, Leschot NJ, Bolhuis PA (Jun 1998). "A novel gamma-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy". Neuromuscular Disorders. 8 (5): 305–8. doi:10.1016/s0960-8966(98)00040-6. PMID 9673983.
  11. ↑ Guyon JR, Kudryashova E, Potts A, Dalkilic I, Brosius MA, Thompson TG, Beckmann JS, Kunkel LM, Spencer MJ (October 2003). "Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans". Muscle Nerve. 28 (4): 472–83. doi:10.1002/mus.10465. PMID 14506720.
  12. ↑ Thompson TG, Chan YM, Hack AA, Brosius M, Rajala M, Lidov HG, McNally EM, Watkins S, Kunkel LM (January 2000). "Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein". J. Cell Biol. 148 (1): 115–26. doi:10.1083/jcb.148.1.115. PMC 3207142. PMID 10629222.

Further reading

External links

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