PRPH2
peripherin 2 (retinal degeneration, slow)
Synonyms:
AOFMD, AVMD, CACD2, DS, PRPH, RDS, RP7, TSPAN22, rd2
Species:
Human PRPH2 (5961), Mouse Prph2 (19133), Rat Prph2 (25534), chicken PRPH2 (395899), dog PRPH2 (403972), domestic cat PRPH2 (727697), cow PRPH2 (280907), sheep PRPH2 (101109569), naked mole-rat Prph2 (101702401), domestic guinea pig Prph2 (100713395)
UniProtKB ID:
Gene ID:
- Human(5961) Summary: 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. [provided by RefSeq, Jul 2008]
- Mouse(19133) peripherin 2
- Rat(25534) peripherin 2
- chicken(395899) peripherin 2 (retinal degeneration, slow)
- dog(403972) peripherin 2 (retinal degeneration, slow)
- domestic cat(727697) peripherin 2 (retinal degeneration, slow)
- cow(280907) peripherin 2 (retinal degeneration, slow)
- sheep(101109569) peripherin 2 (retinal degeneration, slow)
- naked mole-rat(101702401) peripherin 2 (retinal degeneration, slow)
- domestic guinea pig(100713395) peripherin 2 (retinal degeneration, slow)
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