Peripherin 2: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
m (Robot: Automated text replacement (-{{reflist}} +{{reflist|2}}, -<references /> +{{reflist|2}}, -{{WikiDoc Cardiology Network Infobox}} +))
 
imported>Todrobbins
(Added free to read link in citations with OAbot #oabot)
 
(One intermediate revision by one other user not shown)
Line 1: Line 1:
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Peripherin-2''' is a [[protein]], that in humans is encoded by the ''PRPH2'' [[gene]].<ref name="pmid1749427">{{cite journal |vauthors=Farrar GJ, Kenna P, Jordan SA, Kumar-Singh R, Humphries MM, Sharp EM, Sheils DM, Humphries P | title = A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa | journal = Nature | volume = 354 | issue = 6353 | pages = 478–480 |date=Jan 1992 | pmid = 1749427 | pmc =  | doi = 10.1038/354478a0 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: PRPH2 peripherin 2 (retinal degeneration, slow)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5961| accessdate = }}</ref> Peripherin-2 is found in the rod and cone cells of the [[retina]] of the [[eye]]. Defects in this protein result in one form of [[retinitis pigmentosa]], an incurable blindness.
| 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. -->
Mutations in the PRPH2 gene are associated with [[Vitelliform macular dystrophy]].
{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Peripherin 2 (retinal degeneration, slow)
| HGNCid = 9942
| Symbol = PRPH2
| AltSymbols =; PRPH; AOFMD; AVMD; RDS; RP7; TSPAN22; rd2
| OMIM = 179605
| ECnumber = 
| Homologene = 273
| MGIid = 102791
| GeneAtlas_image1 = PBB_GE_PRPH2_206625_at_tn.png
| Function = {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0007155 |text = cell adhesion}} {{GNF_GO|id=GO:0007601 |text = visual perception}} {{GNF_GO|id=GO:0050896 |text = response to stimulus}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 5961
    | Hs_Ensembl = ENSG00000112619
    | Hs_RefseqProtein = NP_000313
    | Hs_RefseqmRNA = NM_000322
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 6
    | Hs_GenLoc_start = 42772318
    | Hs_GenLoc_end = 42798290
    | Hs_Uniprot = P23942
    | Mm_EntrezGene = 19133
    | Mm_Ensembl = ENSMUSG00000023978
    | Mm_RefseqmRNA = NM_008938
    | Mm_RefseqProtein = NP_032964
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 17
    | Mm_GenLoc_start = 46373676
    | Mm_GenLoc_end = 46388117
    | Mm_Uniprot = Q3UWK3
  }}
}}
'''Peripherin 2 (retinal degeneration, slow)''', also known as '''PRPH2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: PRPH2 peripherin 2 (retinal degeneration, slow)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5961| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{PBB_Summary
 
| section_title =
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the [[tetraspanin]] family. Most of these members are cell-surface proteins that are characterized by the presence of four transmembrane helices. Tetraspanins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility.
| summary_text = The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic.<ref name="entrez">{{cite web | title = Entrez Gene: PRPH2 peripherin 2 (retinal degeneration, slow)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5961| accessdate = }}</ref>
 
}}
Peripherin 2 (sometimes referred to as peripherin/RDS or simply RDS) is a cell surface [[glycoprotein]] found in the outer segment of both rod and cone photoreceptor cells. It is located in the rim regions of the flattened disks that contain [[rhodopsin]], which is the protein that is responsible for initiation of visual phototransduction upon reception of light. Peripherin 2 may function as an [[cell adhesion molecule|adhesion molecule]] involved in stabilization and compaction of [[Disc shedding|outer segment disk]]s or in the maintenance of the curvature of the rim. This protein is essential for disk [[morphogenesis]].<ref name="entrez"/>
 
== Clinical significance ==
 
Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant [[retinitis pigmentosa]], progressive [[macular degeneration]], [[Vitelliform macular dystrophy|macular dystrophy]] and retinitis pigmentosa digenic.<ref name="entrez"/>


==References==
==References==
{{reflist|2}}
{{Reflist}}
 
==External links==
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=rp-overview  GeneReviews/NIH/NCBI/UW entry on Retinitis Pigmentosa Overview]
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{Refbegin | 2}}
{{PBB_Further_reading
*{{Cite journal  | author=Berditchevski F |title=Complexes of tetraspanins with integrins: more than meets the eye |journal=J. Cell Sci. |volume=114 |issue= Pt 23 |pages= 4143–51 |year= 2002 |pmid= 11739647 |doi=  }}
| citations =
*{{Cite journal  |vauthors=Boesze-Battaglia K, Goldberg AF |title=Photoreceptor renewal: a role for peripherin/rds |journal=Int. Rev. Cytol. |volume=217 |issue=  |pages= 183–225 |year= 2002 |pmid= 12019563 |doi=10.1016/S0074-7696(02)17015-X | series=International Review of Cytology  | isbn=978-0-12-364621-7  }}
*{{cite journal  | author=Berditchevski F |title=Complexes of tetraspanins with integrins: more than meets the eye. |journal=J. Cell. Sci. |volume=114 |issue= Pt 23 |pages= 4143-51 |year= 2002 |pmid= 11739647 |doi=  }}
*{{Cite journal  | author=Farrar GJ |title=Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree |journal=Genomics |volume=14 |issue= 3 |pages= 805–807 |year= 1992 |pmid= 1427912 |doi=10.1016/S0888-7543(05)80193-4 |name-list-format=vanc| author2=Kenna P | author3=Jordan SA | display-authors=3  | last4=Kumarsingh  | first4=R | last5=Humphries  | first5=M  | last6=Sharp  | first6=E  | last7=Sheils  | first7=D  | last8=Humphries  | first8=P }}
*{{cite journal  | author=Boesze-Battaglia K, Goldberg AF |title=Photoreceptor renewal: a role for peripherin/rds. |journal=Int. Rev. Cytol. |volume=217 |issue=  |pages= 183-225 |year= 2002 |pmid= 12019563 |doi= }}
*{{Cite journal  | author=Jordan SA |title=Autosomal dominant retinitis pigmentosa (adRP; RP6): cosegregation of RP6 and the peripherin-RDS locus in a late-onset family of Irish origin |journal=Am. J. Hum. Genet. |volume=50 |issue= 3 |pages= 634–9 |year= 1992 |pmid= 1539599 |doi=  | pmc=1684267 |name-list-format=vanc| author2=Farrar GJ  | author3=Kumar-Singh R  | display-authors=3  | last4=Kenna  | first4=P  | last5=Humphries  | first5=MM  | last6=Allamand  | first6=V  | last7=Sharp  | first7=EM  | last8=Humphries  | first8=P  }}
*{{cite journal | author=Farrar GJ, Kenna P, Jordan SA, ''et al.'' |title=Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree. |journal=Genomics |volume=14 |issue= 3 |pages= 805-7 |year= 1992 |pmid= 1427912 |doi=  }}
*{{Cite journal  | author=Travis GH |title=The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA |journal=Genomics |volume=10 |issue= 3 |pages= 733–739 |year= 1991 |pmid= 1679750 |doi=10.1016/0888-7543(91)90457-P |name-list-format=vanc| author2=Christerson L  | author3=Danielson PE  | display-authors=3  | last4=Klisak  | first4=I  | last5=Sparkes  | first5=R  | last6=Hahn | first6=L  | last7=Dryja  | first7=T  | last8=Sutcliffe  | first8=J  }}
*{{cite journal | author=Jordan SA, Farrar GJ, Kumar-Singh R, ''et al.'' |title=Autosomal dominant retinitis pigmentosa (adRP; RP6): cosegregation of RP6 and the peripherin-RDS locus in a late-onset family of Irish origin. |journal=Am. J. Hum. Genet. |volume=50 |issue= 3 |pages= 634-9 |year= 1992 |pmid= 1539599 |doi=  }}
*{{Cite journal  | author=Kajiwara K |title=Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa |journal=Nature |volume=354 |issue= 6353 |pages= 480–483 |year= 1992 |pmid= 1684223 |doi= 10.1038/354480a0 |name-list-format=vanc| author2=Hahn LB | author3=Mukai S  | display-authors=3  | last4=Travis  | first4=Gabriel H. | last5=Berson  | first5=Eliot L. | last6=Dryja  | first6=Thaddeus P. }}
*{{cite journal  | author=Travis GH, Christerson L, Danielson PE, ''et al.'' |title=The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA. |journal=Genomics |volume=10 |issue= 3 |pages= 733-9 |year= 1991 |pmid= 1679750 |doi=  }}
*{{Cite journal  | author=Davies K |title=Human genetics. Mapping the way forward |journal=Nature |volume=353 |issue= 6347 |pages= 798–799 |year= 1991 |pmid= 1944554 |doi= 10.1038/353798a0 }}
*{{cite journal | author=Kajiwara K, Hahn LB, Mukai S, ''et al.'' |title=Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. |journal=Nature |volume=354 |issue= 6353 |pages= 480-3 |year= 1992 |pmid= 1684223 |doi= 10.1038/354480a0 }}
*{{Cite journal  | author=Connell G |title=Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=88 |issue= 3 |pages= 723–726 |year= 1991 |pmid= 1992463 |doi=10.1073/pnas.88.3.723 | pmc=50885 |name-list-format=vanc| author2=Bascom R  | author3=Molday L  | display-authors=3  | last4=Reid  | first4=D  | last5=McInnes  | first5=RR  | last6=Molday  | first6=RS }}
*{{cite journal  | author=Farrar GJ, Kenna P, Jordan SA, ''et al.'' |title=A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. |journal=Nature |volume=354 |issue= 6353 |pages= 478-80 |year= 1992 |pmid= 1749427 |doi= 10.1038/354478a0 }}
*{{Cite journal  | author=Travis GH |title=Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds) |journal=Nature |volume=338 |issue= 6210 |pages= 70–73 |year= 1989 |pmid= 2918924 |doi= 10.1038/338070a0 |name-list-format=vanc| author2=Brennan MB  | author3=Danielson PE  | display-authors=3  | last4=Kozak  | first4=Christine A. | last5=Sutcliffe  | first5=J. Gregor |url=https://zenodo.org/record/1233081/files/article.pdf}}
*{{cite journal | author=Davies K |title=Human genetics. Mapping the way forward. |journal=Nature |volume=353 |issue= 6347 |pages= 798-9 |year= 1991 |pmid= 1944554 |doi= 10.1038/353798a0 }}
*{{Cite journal  | author=Reig C |title=A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy |journal=Ophthalmic Genet. |volume=16 |issue= 2 |pages= 39–44 |year= 1996 |pmid= 7493155 |doi=10.3109/13816819509056911 |name-list-format=vanc| author2=Serra A  | author3=Gean E  | display-authors=3  | last4=Vidal  | first4=Mariona  | last5=Arumi  | first5=Joaquin  | last6=De La Calzada  | first6=Maria Dolores  | last7=Antich  | first7=Jaume  | last8=Carballo  | first8=Miguel }}
*{{cite journal | author=Connell G, Bascom R, Molday L, ''et al.'' |title=Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=88 |issue= 3 |pages= 723-6 |year= 1991 |pmid= 1992463 |doi=  }}
*{{Cite journal  |vauthors=Feist RM, White MF, Skalka H, Stone EM |title=Choroidal neovascularization in a patient with adult foveomacular dystrophy and a mutation in the retinal degeneration slow gene (Pro 210 Arg) |journal=Am. J. Ophthalmol. |volume=118 |issue= 2 |pages= 259–60 |year= 1994 |pmid= 7519821 |doi= 10.1016/s0002-9394(14)72913-7 }}
*{{cite journal | author=Travis GH, Brennan MB, Danielson PE, ''et al.'' |title=Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds). |journal=Nature |volume=338 |issue= 6210 |pages= 70-3 |year= 1989 |pmid= 2918924 |doi= 10.1038/338070a0 }}
*{{Cite journal  | author=Gorin MB |title=A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration |journal=Ophthalmology |volume=102 |issue= 2 |pages= 246–55 |year= 1995 |pmid= 7862413 |doi= 10.1016/s0161-6420(95)31029-9|name-list-format=vanc| author2=Jackson KE  | author3=Ferrell RE  | display-authors=3  | last4=Sheffield  | first4=VC  | last5=Jacobson  | first5=SG  | last6=Gass  | first6=JD  | last7=Mitchell  | first7=E  | last8=Stone  | first8=EM  }}
*{{cite journal  | author=Reig C, Serra A, Gean E, ''et al.'' |title=A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy. |journal=Ophthalmic Genet. |volume=16 |issue= 2 |pages= 39-44 |year= 1996 |pmid= 7493155 |doi= }}
*{{Cite journal  | author=Grüning G |title=Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa |journal=Hum. Mutat. |volume=3 |issue= 3 |pages= 321–323 |year= 1994 |pmid= 8019570 |doi= 10.1002/humu.1380030326  |name-list-format=vanc| author2=Millan JM  | author3=Meins M  | display-authors=3  | last4=Beneyto  | first4=Magdalena  | last5=Caballero  | first5=Manuel  | last6=Apfelstedt-Sylla  | first6=Eckart  | last7=Bosch  | first7=Rosabel  | last8=Zrenner  | first8=Eberhart  | last9=Prieto  | first9=Felix }}
*{{cite journal  | author=Feist RM, White MF, Skalka H, Stone EM |title=Choroidal neovascularization in a patient with adult foveomacular dystrophy and a mutation in the retinal degeneration slow gene (Pro 210 Arg) |journal=Am. J. Ophthalmol. |volume=118 |issue= 2 |pages= 259-60 |year= 1994 |pmid= 7519821 |doi=  }}
*{{Cite journal  | author=Kikawa E |title=A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP |journal=Genomics |volume=20 |issue= 1 |pages= 137–139 |year= 1994 |pmid= 8020945 |doi= 10.1006/geno.1994.1142  |name-list-format=vanc| author2=Nakazawa M  | author3=Chida Y  | display-authors=3  | last4=Shiono  | first4=T  | last5=Tamai  | first5=M }}
*{{cite journal | author=Gorin MB, Jackson KE, Ferrell RE, ''et al.'' |title=A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration. |journal=Ophthalmology |volume=102 |issue= 2 |pages= 246-55 |year= 1995 |pmid= 7862413 |doi=  }}
*{{Cite journal  | author=Farrar GJ |title=Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree |journal=Genomics |volume=15 |issue= 2 |pages= 466 |year= 1993 |pmid= 8449524 |doi= 10.1006/geno.1993.1095 |name-list-format=vanc| author2=Kenna P  | author3=Jordan SA  | display-authors=3  | last4=Kumar-Singh  | first4=R  | last5=Humphries  | first5=MM  | last6=Sharp  | first6=EM  | last7=Sheils  | first7=D  | last8=Humphries  | first8=P  }}
*{{cite journal  | author=Grüning G, Millan JM, Meins M, ''et al.'' |title=Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa. |journal=Hum. Mutat. |volume=3 |issue= 3 |pages= 321-3 |year= 1994 |pmid= 8019570 |doi= 10.1002/humu.1380030326 }}
*{{Cite journal  | author=Nichols BE |title=Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene |journal=Nat. Genet. |volume=3 |issue= 3 |pages= 202–207 |year= 1993 |pmid= 8485574 |doi= 10.1038/ng0393-202  |name-list-format=vanc| author2=Sheffield VC  | author3=Vandenburgh K  | display-authors=3  | last4=Drack  | first4=Arlene V.  | last5=Kimura  | first5=Alan E.  | last6=Stone  | first6=Edwin M. }}
*{{cite journal | author=Kikawa E, Nakazawa M, Chida Y, ''et al.'' |title=A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP. |journal=Genomics |volume=20 |issue= 1 |pages= 137-9 |year= 1994 |pmid= 8020945 |doi= 10.1006/geno.1994.1142 }}
*{{Cite journal  | author=Wells J |title=Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy |journal=Nat. Genet. |volume=3 |issue= 3 |pages= 213–218 |year= 1993 |pmid= 8485576 |doi= 10.1038/ng0393-213  |name-list-format=vanc| author2=Wroblewski J  | author3=Keen J  | display-authors=3  | last4=Inglehearn  | first4=Christopher  | last5=Jubb  | first5=Christopher  | last6=Eckstein  | first6=Anja  | last7=Jay  | first7=Marcelle  | last8=Arden  | first8=Geoffrey  | last9=Bhattacharya  | first9=Shomi }}
*{{cite journal | author=Farrar GJ, Kenna P, Jordan SA, ''et al.'' |title=Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree. |journal=Genomics |volume=15 |issue= 2 |pages= 466 |year= 1993 |pmid= 8449524 |doi=  }}
*{{Cite journal  |vauthors=Keen TJ, Inglehearn CF |title=Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration |journal=Hum. Mutat. |volume=8 |issue= 4 |pages= 297–303 |year= 1997 |pmid= 8956033 |doi= 10.1002/(SICI)1098-1004(1996)8:4<297::AID-HUMU1>3.0.CO;2-5 }}
*{{cite journal  | author=Nichols BE, Sheffield VC, Vandenburgh K, ''et al.'' |title=Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. |journal=Nat. Genet. |volume=3 |issue= 3 |pages= 202-7 |year= 1993 |pmid= 8485574 |doi= 10.1038/ng0393-202 }}
*{{Cite journal  |vauthors=Felbor U, Schilling H, Weber BH |title=Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene |journal=Hum. Mutat. |volume=10 |issue= 4 |pages= 301–309 |year= 1997 |pmid= 9338584 |doi= 10.1002/(SICI)1098-1004(1997)10:4<301::AID-HUMU6>3.0.CO;2-J }}
*{{cite journal  | author=Wells J, Wroblewski J, Keen J, ''et al.'' |title=Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. |journal=Nat. Genet. |volume=3 |issue= 3 |pages= 213-8 |year= 1993 |pmid= 8485576 |doi= 10.1038/ng0393-213 }}
{{Refend}}
*{{cite journal  | author=Keen TJ, Inglehearn CF |title=Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration. |journal=Hum. Mutat. |volume=8 |issue= 4 |pages= 297-303 |year= 1997 |pmid= 8956033 |doi= 10.1002/(SICI)1098-1004(1996)8:4&lt;297::AID-HUMU1&gt;3.0.CO;2-5 }}
*{{cite journal  | author=Felbor U, Schilling H, Weber BH |title=Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. |journal=Hum. Mutat. |volume=10 |issue= 4 |pages= 301-9 |year= 1997 |pmid= 9338584 |doi= 10.1002/(SICI)1098-1004(1997)10:4<301::AID-HUMU6>3.0.CO;2-J }}
}}
{{refend}}
 
{{protein-stub}}

Latest revision as of 15:02, 5 November 2018

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

Peripherin-2 is a protein, that in humans is encoded by the PRPH2 gene.[1][2] Peripherin-2 is found in the rod and cone cells of the retina of the eye. Defects in this protein result in one form of retinitis pigmentosa, an incurable blindness.

Mutations in the PRPH2 gene are associated with Vitelliform macular dystrophy.

Function

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four transmembrane helices. Tetraspanins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility.

Peripherin 2 (sometimes referred to as peripherin/RDS or simply RDS) is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It is located in the rim regions of the flattened disks that contain rhodopsin, which is the protein that is responsible for initiation of visual phototransduction upon reception of light. Peripherin 2 may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis.[2]

Clinical significance

Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic.[2]

References

  1. ↑ Farrar GJ, Kenna P, Jordan SA, Kumar-Singh R, Humphries MM, Sharp EM, Sheils DM, Humphries P (Jan 1992). "A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa". Nature. 354 (6353): 478–480. doi:10.1038/354478a0. PMID 1749427.
  2. ↑ 2.0 2.1 2.2 "Entrez Gene: PRPH2 peripherin 2 (retinal degeneration, slow)".

External links

Further reading

Retrieved from "https://www.wikidoc.org/index.php?title=Peripherin_2&oldid=1533211"