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{{Infobox_gene}}
'''Calpain-3''' is a [[protein]] that in humans is encoded by the ''CAPN3'' [[gene]].<ref name="pmid2555341">{{cite journal | vauthors = Sorimachi H, Imajoh-Ohmi S, Emori Y, Kawasaki H, Ohno S, Minami Y, Suzuki K | title = Molecular cloning of a novel mammalian calcium-dependent protease distinct from both m- and mu-types. Specific expression of the mRNA in skeletal muscle | journal = J. Biol. Chem. | volume = 264 | issue = 33 | pages = 20106–11  | date = December 1989 | pmid = 2555341 | pmc =  | doi =  }}</ref><ref name="pmid7720071">{{cite journal | vauthors = Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C | title = Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A | journal = Cell | volume = 81 | issue = 1 | pages = 27–40  | date = May 1995 | pmid = 7720071 | pmc =  | doi = 10.1016/0092-8674(95)90368-2 }}</ref>


== Function ==


<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
[[Calpain]], a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with [[limb-girdle muscular dystrophies]] type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed.<ref name="entrez">{{cite web | title = Entrez Gene: CAPN3 calpain 3, (p94)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=825| accessdate = }}</ref>
{{PBB_Controls
| 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. -->
In melanocytic cells CAPN3 gene expression may be regulated by [[Microphthalmia-associated transcription factor|MITF]].<ref name="pmid19067971">{{cite journal | vauthors = Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E | title = Novel MITF targets identified using a two-step DNA microarray strategy | journal = Pigment Cell Melanoma Res | volume = 21 | issue = 6 | pages = 665–76 | year = 2008 | pmid = 19067971 | doi = 10.1111/j.1755-148X.2008.00505.x }}</ref>
{{GNF_Protein_box
| image =
| image_source = 
| PDB =
| Name = Calpain 3, (p94)
| HGNCid = 1480
| Symbol = CAPN3
| AltSymbols =; CANP3; CANPL3; LGMD2; LGMD2A; MGC10767; MGC11121; MGC14344; MGC4403; nCL-1; p94
| OMIM = 114240
| ECnumber =
| Homologene = 52
| MGIid = 107437
| GeneAtlas_image1 = PBB_GE_CAPN3_gnf1h02293_at_tn.png
| GeneAtlas_image2 = PBB_GE_CAPN3_gnf1h06575_at_tn.png
| GeneAtlas_image3 = PBB_GE_CAPN3_gnf1h08766_s_at_tn.png
| Function = {{GNF_GO|id=GO:0004198 |text = calpain activity}} {{GNF_GO|id=GO:0004871 |text = signal transducer activity}} {{GNF_GO|id=GO:0005509 |text = calcium ion binding}}
| Component = {{GNF_GO|id=GO:0005622 |text = intracellular}}
| Process = {{GNF_GO|id=GO:0006508 |text = proteolysis}} {{GNF_GO|id=GO:0007517 |text = muscle development}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 825
    | Hs_Ensembl = 
    | Hs_RefseqProtein = NP_000061
    | Hs_RefseqmRNA = NM_000070
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 
    | Hs_GenLoc_start = 
    | Hs_GenLoc_end = 
    | Hs_Uniprot = 
    | Mm_EntrezGene = 12335
    | Mm_Ensembl = ENSMUSG00000062646
    | Mm_RefseqmRNA = NM_007601
    | Mm_RefseqProtein = NP_031627
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 2
    | Mm_GenLoc_start = 120096421
    | Mm_GenLoc_end = 120196107
    | Mm_Uniprot = Q8C532
  }}
}}
'''Calpain 3, (p94)''', also known as '''CAPN3''', is a human [[gene]].


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Interactions ==
{{PBB_Summary
| section_title =  
| summary_text = Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed.<ref name="entrez">{{cite web | title = Entrez Gene: CAPN3 calpain 3, (p94)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=825| accessdate = }}</ref>
}}


==References==
CAPN3 has been shown to [[Protein-protein interaction|interact]] with [[Titin]].<ref name=pmid9642272>{{cite journal | vauthors = Ono Y, Shimada H, Sorimachi H, Richard I, Saido TC, Beckmann JS, Ishiura S, Suzuki K | title = Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A | journal = J. Biol. Chem. | volume = 273 | issue = 27 | pages = 17073–8  | date = July 1998 | pmid = 9642272 | doi = 10.1074/jbc.273.27.17073 }}</ref><ref name=pmid8537379>{{cite journal | vauthors = Sorimachi H, Kinbara K, Kimura S, Takahashi M, Ishiura S, Sasagawa N, Sorimachi N, Shimada H, Tagawa K, Maruyama K | title = Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence | journal = J. Biol. Chem. | volume = 270 | issue = 52 | pages = 31158–62  | date = December 1995 | pmid = 8537379 | doi = 10.1074/jbc.270.52.31158 }}</ref>
 
== References ==
{{reflist}}
{{reflist}}
==Further reading==
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Sorimachi H, Ishiura S, Suzuki K | title = Structure and physiological function of calpains | journal = Biochem. J. | volume = 328 | issue = 3 | pages = 721–32 | year = 1997 | pmid = 9396712 | pmc = 1218978 | doi =  10.1042/bj3280721}}
| citations =
* {{cite journal | vauthors = Kinbara K, Sorimachi H, Ishiura S, Suzuki K | title = Skeletal muscle-specific calpain, p49: structure and physiological function | journal = Biochem. Pharmacol. | volume = 56 | issue = 4 | pages = 415–20 | year = 1998 | pmid = 9763216 | doi = 10.1016/S0006-2952(98)00095-1 }}
*{{cite journal | author=Sorimachi H, Ishiura S, Suzuki K |title=Structure and physiological function of calpains. |journal=Biochem. J. |volume=328 ( Pt 3) |issue= |pages= 721–32 |year= 1998 |pmid= 9396712 |doi=  }}
* {{cite journal | vauthors = Sorimachi H, Ono Y, Suzuki K | title = Skeletal muscle-specific calpain, p94, and connectin/titin: their physiological functions and relationship to limb-girdle muscular dystrophy type 2A | journal = Adv. Exp. Med. Biol. | volume = 481 | issue =  | pages = 383-95; discussion 395-7 | year = 2000 | pmid = 10987085 | doi = 10.1007/978-1-4615-4267-4_23 }}
*{{cite journal | author=Kinbara K, Sorimachi H, Ishiura S, Suzuki K |title=Skeletal muscle-specific calpain, p49: structure and physiological function. |journal=Biochem. Pharmacol. |volume=56 |issue= 4 |pages= 415–20 |year= 1998 |pmid= 9763216 |doi= }}
* {{cite journal | vauthors = Baghdiguian S, Richard I, Martin M, Coopman P, Beckmann JS, Mangeat P, Lefranc G | title = Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the IkappaBalpha/NF-kappaB survival pathway in skeletal muscle | journal = J. Mol. Med. | volume = 79 | issue = 5–6 | pages = 254–61 | year = 2001 | pmid = 11485017 | doi = 10.1007/s001090100225 }}
*{{cite journal | author=Sorimachi H, Ono Y, Suzuki K |title=Skeletal muscle-specific calpain, p94, and connectin/titin: their physiological functions and relationship to limb-girdle muscular dystrophy type 2A. |journal=Adv. Exp. Med. Biol. |volume=481 |issue=  |pages= 383–95; discussion 395–7 |year= 2000 |pmid= 10987085 |doi= }}
* {{cite journal | vauthors = Canki-Klain N, Milic A, Kovac B, Trlaja A, Grgicevic D, Zurak N, Fardeau M, Leturcq F, Kaplan JC, Urtizberea JA, Politano L, Piluso G, Feingold J | title = Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia | journal = Am. J. Med. Genet. A | volume = 125A | issue = 2 | pages = 152–6 | year = 2004 | pmid = 14981715 | doi = 10.1002/ajmg.a.20408 }}
*{{cite journal | author=Baghdiguian S, Richard I, Martin M, ''et al.'' |title=Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the IkappaBalpha/NF-kappaB survival pathway in skeletal muscle. |journal=J. Mol. Med. |volume=79 |issue= 5-6 |pages= 254–61 |year= 2002 |pmid= 11485017 |doi= }}
* {{cite journal | vauthors = Kramerova I, Beckmann JS, Spencer MJ | title = Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A) | journal = Biochim. Biophys. Acta | volume = 1772 | issue = 2 | pages = 128–44 | year = 2007 | pmid = 16934440 | doi = 10.1016/j.bbadis.2006.07.002 }}
*{{cite journal | author=Canki-Klain N, Milic A, Kovac B, ''et al.'' |title=Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia. |journal=Am. J. Med. Genet. A |volume=125 |issue= 2 |pages= 152–6 |year= 2004 |pmid= 14981715 |doi= 10.1002/ajmg.a.20408 }}
* {{cite journal | vauthors = Ohno S, Minoshima S, Kudoh J, Fukuyama R, Shimizu Y, Ohmi-Imajoh S, Shimizu N, Suzuki K | title = Four genes for the calpain family locate on four distinct human chromosomes | journal = Cytogenet. Cell Genet. | volume = 53 | issue = 4 | pages = 225–9 | year = 1990 | pmid = 2209092 | doi = 10.1159/000132937 }}
*{{cite journal | author=Kramerova I, Beckmann JS, Spencer MJ |title=Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A). |journal=Biochim. Biophys. Acta |volume=1772 |issue= 2 |pages= 128–44 |year= 2007 |pmid= 16934440 |doi= 10.1016/j.bbadis.2006.07.002 }}
* {{cite journal | vauthors = Sorimachi H, Kinbara K, Kimura S, Takahashi M, Ishiura S, Sasagawa N, Sorimachi N, Shimada H, Tagawa K, Maruyama K | title = Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence | journal = J. Biol. Chem. | volume = 270 | issue = 52 | pages = 31158–62 | year = 1995 | pmid = 8537379 | doi = 10.1074/jbc.270.52.31158 }}
*{{cite journal | author=Ohno S, Minoshima S, Kudoh J, ''et al.'' |title=Four genes for the calpain family locate on four distinct human chromosomes. |journal=Cytogenet. Cell Genet. |volume=53 |issue= 4 |pages= 225–9 |year= 1990 |pmid= 2209092 |doi= }}
* {{cite journal | vauthors = Fardeau M, Hillaire D, Mignard C, Feingold N, Feingold J, Mignard D, de Ubeda B, Collin H, Tome FM, Richard I, Beckmann J | title = Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island | journal = Brain | volume = 119 | issue = 1 | pages = 295–308 | year = 1996 | pmid = 8624690 | doi = 10.1093/brain/119.1.295 }}
*{{cite journal | author=Sorimachi H, Imajoh-Ohmi S, Emori Y, ''et al.'' |title=Molecular cloning of a novel mammalian calcium-dependent protease distinct from both m- and mu-types. Specific expression of the mRNA in skeletal muscle. |journal=J. Biol. Chem. |volume=264 |issue= 33 |pages= 20106–11 |year= 1989 |pmid= 2555341 |doi= }}
* {{cite journal | vauthors = Corasaniti MT, Navarra M, Catani MV, Melino G, Nisticò G, Finazzi-Agrò A | title = NMDA and HIV-1 coat protein, GP120, produce necrotic but not apoptotic cell death in human CHP100 neuroblastoma cultures via a mechanism involving calpain | journal = Biochem. Biophys. Res. Commun. | volume = 229 | issue = 1 | pages = 299–304 | year = 1996 | pmid = 8954122 | doi = 10.1006/bbrc.1996.1796 }}
*{{cite journal | author=Richard I, Broux O, Allamand V, ''et al.'' |title=Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. |journal=Cell |volume=81 |issue= 1 |pages= 27–40 |year= 1995 |pmid= 7720071 |doi= }}
* {{cite journal | vauthors = Richard I, Brenguier L, Dinçer P, Roudaut C, Bady B, Burgunder JM, Chemaly R, Garcia CA, Halaby G, Jackson CE, Kurnit DM, Lefranc G, Legum C, Loiselet J, Merlini L, Nivelon-Chevallier A, Ollagnon-Roman E, Restagno G, Topaloglu H, Beckmann JS | title = Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins | journal = Am. J. Hum. Genet. | volume = 60 | issue = 5 | pages = 1128–38 | year = 1997 | pmid = 9150160 | pmc = 1712426 | doi =  }}
*{{cite journal | author=Sorimachi H, Kinbara K, Kimura S, ''et al.'' |title=Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence. |journal=J. Biol. Chem. |volume=270 |issue= 52 |pages= 31158–62 |year= 1996 |pmid= 8537379 |doi= }}
* {{cite journal | vauthors = Kinbara K, Sorimachi H, Ishiura S, Suzuki K | title = Muscle-specific calpain, p94, interacts with the extreme C-terminal region of connectin, a unique region flanked by two immunoglobulin C2 motifs | journal = Arch. Biochem. Biophys. | volume = 342 | issue = 1 | pages = 99–107 | year = 1997 | pmid = 9185618 | doi = 10.1006/abbi.1997.0108 }}
*{{cite journal | author=Fardeau M, Hillaire D, Mignard C, ''et al.'' |title=Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island. |journal=Brain |volume=119 ( Pt 1) |issue=  |pages= 295–308 |year= 1996 |pmid= 8624690 |doi=  }}
* {{cite journal | vauthors = Pratt VM, Jackson CE, Wallace DC, Gurley DS, Feit A, Feldman GL | title = DNA studies of limb-girdle muscular dystrophy type 2A in the Amish exclude a modifying mitochondrial gene and show no evidence for a modifying nuclear gene | journal = Am. J. Hum. Genet. | volume = 61 | issue = 1 | pages = 231–3 | year = 1997 | pmid = 9246005 | pmc = 1715865 | doi = 10.1016/S0002-9297(07)64296-7 }}
*{{cite journal | author=Corasaniti MT, Navarra M, Catani MV, ''et al.'' |title=NMDA and HIV-1 coat protein, GP120, produce necrotic but not apoptotic cell death in human CHP100 neuroblastoma cultures via a mechanism involving calpain. |journal=Biochem. Biophys. Res. Commun. |volume=229 |issue= 1 |pages= 299–304 |year= 1997 |pmid= 8954122 |doi= 10.1006/bbrc.1996.1796 }}
* {{cite journal | vauthors = Dinçer P, Leturcq F, Richard I, Piccolo F, Yalnizoglu D, de Toma C, Akçören Z, Broux O, Deburgrave N, Brenguier L, Roudaut C, Urtizberea JA, Jung D, Tan E, Jeanpierre M, Campbell KP, Kaplan JC, Beckmann JS, Topaloglu H | title = A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey | journal = Ann. Neurol. | volume = 42 | issue = 2 | pages = 222–9 | year = 1997 | pmid = 9266733 | doi = 10.1002/ana.410420214 }}
*{{cite journal | author=Richard I, Brenguier L, Dinçer P, ''et al.'' |title=Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. |journal=Am. J. Hum. Genet. |volume=60 |issue= 5 |pages= 1128–38 |year= 1997 |pmid= 9150160 |doi= }}
* {{cite journal | vauthors = Ono Y, Shimada H, Sorimachi H, Richard I, Saido TC, Beckmann JS, Ishiura S, Suzuki K | title = Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A | journal = J. Biol. Chem. | volume = 273 | issue = 27 | pages = 17073–8 | year = 1998 | pmid = 9642272 | doi = 10.1074/jbc.273.27.17073 }}
*{{cite journal | author=Kinbara K, Sorimachi H, Ishiura S, Suzuki K |title=Muscle-specific calpain, p94, interacts with the extreme C-terminal region of connectin, a unique region flanked by two immunoglobulin C2 motifs. |journal=Arch. Biochem. Biophys. |volume=342 |issue= 1 |pages= 99–107 |year= 1997 |pmid= 9185618 |doi= 10.1006/abbi.1997.0108 }}
* {{cite journal | vauthors = Pénisson-Besnier I, Richard I, Dubas F, Beckmann JS, Fardeau M | title = Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings | journal = Muscle Nerve | volume = 21 | issue = 8 | pages = 1078–80 | year = 1998 | pmid = 9655129 | doi = 10.1002/(SICI)1097-4598(199808)21:8<1078::AID-MUS15>3.0.CO;2-Q }}
*{{cite journal | author=Pratt VM, Jackson CE, Wallace DC, ''et al.'' |title=DNA studies of limb-girdle muscular dystrophy type 2A in the Amish exclude a modifying mitochondrial gene and show no evidence for a modifying nuclear gene. |journal=Am. J. Hum. Genet. |volume=61 |issue= 1 |pages= 231–3 |year= 1997 |pmid= 9246005 |doi= }}
* {{cite journal | vauthors = Urtasun M, Sáenz A, Roudaut C, Poza JJ, Urtizberea JA, Cobo AM, Richard I, García Bragado F, Leturcq F, Kaplan JC, Martí Massó JF, Beckmann JS, López de Munain A | title = Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain) | journal = Brain | volume = 121 | issue = 9 | pages = 1735–47 | year = 1998 | pmid = 9762961 | doi = 10.1093/brain/121.9.1735 }}
*{{cite journal | author=Dinçer P, Leturcq F, Richard I, ''et al.'' |title=A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey. |journal=Ann. Neurol. |volume=42 |issue= 2 |pages= 222–9 |year= 1997 |pmid= 9266733 |doi= 10.1002/ana.410420214 }}
* {{cite journal | vauthors = Huang Y, de Morrée A, van Remoortere A, Bushby K, Frants RR, den Dunnen JT, van der Maarel SM | title = Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle | journal = Hum. Mol. Genet. | volume = 17 | issue = 12 | pages = 1855–66 | year = 2008 | pmid = 18334579 | pmc = 2900895 | doi = 10.1093/hmg/ddn081 }}
*{{cite journal | author=Ono Y, Shimada H, Sorimachi H, ''et al.'' |title=Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A. |journal=J. Biol. Chem. |volume=273 |issue= 27 |pages= 17073–8 |year= 1998 |pmid= 9642272 |doi= }}
 
*{{cite journal | author=Pénisson-Besnier I, Richard I, Dubas F, ''et al.'' |title=Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings. |journal=Muscle Nerve |volume=21 |issue= 8 |pages= 1078–80 |year= 1998 |pmid= 9655129 |doi= }}
*{{cite journal  | author=Urtasun M, Sáenz A, Roudaut C, ''et al.'' |title=Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain). |journal=Brain |volume=121 ( Pt 9) |issue=  |pages= 1735–47 |year= 1998 |pmid= 9762961 |doi=  }}
}}
{{refend}}
{{refend}}


{{WikiDoc Help Menu}}
== External links ==
{{WikiDoc Sources}}
* The [[MEROPS]] online database for peptidases and their inhibitors: [http://merops.sanger.ac.uk/cgi-bin/merops.cgi?id=C02.004 C02.004]
*[https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lgmd2a  GeneReviews/NCBI/NIH/UW entry on Calpainopathy]
* [[LOVD]] mutation database: [http://www.dmd.nl/nmdb2/?select_db=CAPN3 CAPN3]
* {{UCSC gene info|CAPN3}}
 
{{Cysteine proteases}}
 
[[Category:EF-hand-containing proteins]]

Latest revision as of 02:34, 17 October 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

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

Calpain-3 is a protein that in humans is encoded by the CAPN3 gene.[1][2]

Function

Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed.[3]

In melanocytic cells CAPN3 gene expression may be regulated by MITF.[4]

Interactions

CAPN3 has been shown to interact with Titin.[5][6]

References

  1. ↑ Sorimachi H, Imajoh-Ohmi S, Emori Y, Kawasaki H, Ohno S, Minami Y, Suzuki K (December 1989). "Molecular cloning of a novel mammalian calcium-dependent protease distinct from both m- and mu-types. Specific expression of the mRNA in skeletal muscle". J. Biol. Chem. 264 (33): 20106–11. PMID 2555341.
  2. ↑ Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C (May 1995). "Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A". Cell. 81 (1): 27–40. doi:10.1016/0092-8674(95)90368-2. PMID 7720071.
  3. ↑ "Entrez Gene: CAPN3 calpain 3, (p94)".
  4. ↑ Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.
  5. ↑ Ono Y, Shimada H, Sorimachi H, Richard I, Saido TC, Beckmann JS, Ishiura S, Suzuki K (July 1998). "Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A". J. Biol. Chem. 273 (27): 17073–8. doi:10.1074/jbc.273.27.17073. PMID 9642272.
  6. ↑ Sorimachi H, Kinbara K, Kimura S, Takahashi M, Ishiura S, Sasagawa N, Sorimachi N, Shimada H, Tagawa K, Maruyama K (December 1995). "Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence". J. Biol. Chem. 270 (52): 31158–62. doi:10.1074/jbc.270.52.31158. PMID 8537379.

Further reading

External links

Retrieved from "https://www.wikidoc.org/index.php?title=CAPN3&oldid=1416845"