Peripherin 2

Peripherin 2 (retinal degeneration, slow), also known as PRPH2, is a human gene.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 = ]

PBB_Summary
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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.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 = ]

References

Further reading

PBB_Further_reading
citations =
*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=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=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=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=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=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=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=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=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 | 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=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=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=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=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=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=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 | 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 | 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
*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<297::AID-HUMU1>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 |doilabel=10.1002/(SICI)1098-1004(1997)10:4301::AID-HUMU63.0.CO;2-J

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