Peripherin-2
Web15. jún 2016 · Peripherin-2 is a glycomembrane protein exclusively expressed in the light-sensing compartments of rod and cone photoreceptors designated as outer segments … 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. Zobraziť viac 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 … Zobraziť viac Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal … Zobraziť viac • GeneReviews/NIH/NCBI/UW entry on Retinitis Pigmentosa Overview Zobraziť viac • Berditchevski F (2002). "Complexes of tetraspanins with integrins: more than meets the eye". J. Cell Sci. 114 (Pt 23): 4143–51. doi:10.1242/jcs.114.23.4143. PMID 11739647. • Boesze-Battaglia K, Goldberg AF (2002). "Photoreceptor renewal: a role for peripherin/rds" Zobraziť viac
Peripherin-2
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Web8. dec 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 … Web27. mar 2007 · Previously published data showed that both peripherin-2 and viral fusion proteins are transmembrane proteins that promote membrane fusion and have a fusion …
WebNational Center for Biotechnology Information WebA form of vitelliform macular dystrophy, a retinal disease characterized by yellow, lipofuscin-containing deposits, usually localized at the center of the macula. Patients usually …
Web10. feb 2024 · This report investigates the molecular basis for normal OS structure. It demonstrates that peripherin-2/rds (P/rds), a photoreceptor-specific protein associated … WebPeripherin 2 is a rod photoreceptor-specific structural protein, mutations in which lead to autosomal recessive RP or macular dystrophy. The retinal degeneration slow (rds) mouse …
WebPeripherin-2, the product of the rds gene, is a tetraspanin protein. In this study, we show that peripherin-2 forms a complex with melanoregulin (MREG), the product of the Mreg locus. …
Web21. mar 2024 · PRPH (Peripherin) is a Protein Coding gene. Diseases associated with PRPH include Amyotrophic Lateral Sclerosis 1 and Amyotrophic Lateral Sclerosis Type 22 . … pnb housing share newsWebPeripherin 2 is found in the retina, the light-sensitive tissue that lines the back of the eye. This protein is essential for the normal function of specialized cells called photoreceptors … pnb housing newshttp://www.cnreagent.com/show1001180/product_93563.html pnb houtbouwWeb9. júl 2024 · Abstract Over 175 pathogenic mutations in the Peripherin-2 ( PRPH2) gene are linked to various retinal diseases. We report the phenotype and genotype of eight families … pnb hrms 20 login pageWeb24. mar 2024 · Peripherin 2 (Prph2) is a photoreceptor-specific tetraspanin protein present in the outer segment (OS) rims of rod and cone photoreceptors. It shares many common … pnb hrms employee self serviceWeb24. máj 2024 · By analyzing the molecular mechanisms of two adRP-linked peripherin-2 mutants, we provide evidence for a novel role of peripherin-2 and its homolog Rom-1 in … pnb housing thane branchWebPRPH2; retinal dystrophy; novel variants; choroidal neovascularization; extensive chorioretinal atrophy; multimodal imaging; electroretinogram 1. Introduction Mutations in the peripherin-2 ( PRPH2) gene are frequently found in inherited retinal diseases (IRD) [ 1, 2 ]. pnb hrms 20 login