WebMar 24, 2024 · Abstract. Peripherin 2 (Prph2) is a photoreceptor-specific tetraspanin protein present in the outer segment (OS) rims of rod and cone photoreceptors. It shares many … WebNov 9, 2024 · PRPH2 and ROM1 are retina-specific members of the tetraspanin family. The members of this family, 33 in humans, are known as membrane organizers and are …
PRPH2-Associated Disease — Foundation Fighting Blindness
WebPeripherin-2 is a critical factor in ocular disk morphogenesis and possibly functions as an adhesion molecule helping to stabilize and compact outer segment disks, to help maintain curvature of the rim. Peripherin-2 is expressed in the photoreceptors of the retina and in the rim of rod outer segment (ROS) disks. Peripherin-2 defects are found ... most number of skyscrapers in the world
Prph2 MGI Mouse Gene Detail - MGI:102791 - peripherin 2
Peripherin-2 is a protein, that in humans is encoded by the PRPH2 gene. 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. See more 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 … See more 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 … See more • GeneReviews/NIH/NCBI/UW entry on Retinitis Pigmentosa Overview See more • Berditchevski F (2002). "Complexes of tetraspanins with integrins: more than meets the eye". J. Cell Sci. 114 (Pt 23): 4143–51. See more WebAbstract. Peripherin-2, the product of the rdsgene, is a tetraspanin protein. In this study, we show that peripherin-2 forms a complex with melanoregulin (MREG), the product of the … WebDec 8, 2024 · peripherin 2. Gene ID: 5961, updated on 8-Dec-2024. Gene type: protein coding. Also known as: DS; RDS; RP7; rd2; AVMD; PRPH; AOFMD; CACD2; MDBS1; TSPAN22. See … mini cube wood stoves