peripherin 2

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.

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.

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• [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=rp-overview GeneReviews/NIH/NCBI/UW entry on Retinitis Pigmentosa Overview]

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• {{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 |doi=10.1242/jcs.114.23.4143 |pmid= 11739647 }}
• {{Cite journal |vauthors=Boesze-Battaglia K, Goldberg AF |title=Photoreceptor renewal: a role for peripherin/rds |journal=Int. Rev. Cytol. |volume=217 |pages=[https://archive.org/details/internationalrev0000unse_u5l3/page/183 183–225] |year=2002 |pmid=12019563 |doi=10.1016/S0074-7696(02)17015-X |series=International Review of Cytology |isbn=978-0-12-364621-7 |pmc=4732730 |url=https://archive.org/details/internationalrev0000unse_u5l3/page/183 }}
• {{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-style=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=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 | pmc=1684267 |name-list-style=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=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-style=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=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-style=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. |s2cid=4367647 }}
• {{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 |s2cid=26334246 |doi-access=free }}
• {{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-style=vanc| author2=Bascom R | author3=Molday L | display-authors=3 | last4=Reid | first4=D | last5=McInnes | first5=RR | last6=Molday | first6=RS |bibcode=1991PNAS...88..723C |doi-access=free }}
• {{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-style=vanc| author2=Brennan MB | author3=Danielson PE | display-authors=3 | last4=Kozak | first4=Christine A. | last5=Sutcliffe | first5=J. Gregor |bibcode=1989Natur.338...70T |s2cid=4240409 |url=https://zenodo.org/record/1233081}}
• {{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-style=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 |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=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-style=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 |s2cid=5889459 | url=https://escholarship.org/content/qt2wd9c2vg/qt2wd9c2vg.pdf?t=oq22va }}
• {{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-style=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 |s2cid=30416118 | doi-access=free }}
• {{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-style=vanc| author2=Nakazawa M | author3=Chida Y | display-authors=3 | last4=Shiono | first4=T | last5=Tamai | first5=M }}
• {{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-style=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=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-style=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. |s2cid=9412767 }}
• {{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-style=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 |s2cid=2069405 }}
• {{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 |s2cid=6404501 |doi-access=free }}
• {{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 |s2cid=20629219 |doi-access=free }}

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