Peripherin-2
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 … 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 …
Peripherin-2
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Web21. mar 2024 · PRPH2 (Peripherin 2) is a Protein Coding gene. Diseases associated with PRPH2 include Macular Dystrophy, Vitelliform, 3 and Retinitis Pigmentosa 7 . An … 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
WebPeripherin 2 (Prph2, formally known as retinal degeneration slow, RDS) represents a photoreceptor-specific tetraspanin. It is a structural protein that is critical for the proper development of rod and cone outer segments (ROS and … Web9. 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 …
Web1.波形蛋白 2.结蛋白 3.胶质原纤维酸性蛋白（GFAP） 4.外周蛋白（peripherin） 1. 波形蛋白（vimentin） 间质细胞（如成纤维细胞）的主要结构蛋白，C端尾 部特异地结合于细胞核外膜，N端头部结合细胞膜，故在 细胞核和细胞膜之间形成联接。 Web10. dec 2009 · Peripherin-2 (Prph2) is a highly expressed photoreceptor-specific gene in which mutations often lead to dominantly inherited retinal disorders. The gene product, …
WebTypes I and II are the keratins which are expressed in epithelia. Type III contains the proteins vimentin, desmin, peripherin and glial fibrillary acidic protein (GFAP). Type IV consists of the neurofilament proteins NF-L, NF-M, NF-H and α-internexin. Type V consists of the nuclear lamins, and type VI consists of the protein nestin.
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 … gin awards ukWeb14. apr 2024 · 产品特征 抑制大多数荧光基团、染料、荧光蛋白和其他干扰物质的光漂白 折射率适宜 即用型,操作简单、方便 对长时间保存的样本，仍具有抑制光漂白的作用 使用方便 含或不含DAPI 具有硬化或非硬化两种形式，可灵活选择 VECTASHIELD® 封片剂种类和应用 VECTASHIELD® 封片剂与荧光团的兼容性 VECTASHIELD®系列封片剂是用于免疫荧光应 … full custody agreement letterWeb21. apr 2024 · One protein thought to play a role in the process of disc enclosure is a photoreceptor-specific tetraspanin PRPH2 (also known as peripherin-2 or rds), whose … gina wasemillerWebPeripherin-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. … gin awards 2023Web18. nov 2024 · Peripherin-2 (PRPH2) is one of the causative genes of inherited retinal dystrophy.While the gene is relatively common in Caucasians, reports from Asian ethnicities are limited. In the present study, we report 40 Japanese patients from 30 families with PRPH2-associated retinal dystrophy.We identified 17 distinct pathogenic or likely … gina warrior of light telegramWebThe genes CNGA1 and CNGB1 encode the alpha and beta subunits of the rod CNG channel, a ligand-gated cation channel whose activity is controlled by cyclic guanosine monophosphate (cGMP). Autosomal inherited mutations in either of the genes lead to a progressive rod-cone retinopathy known as retinitis pigmentosa (RP). The rod CNG … full custom beylauncher lrWeb特异性 本试剂盒用于检测外周蛋白 (PRPH)，经检测与其它相似物质无明显交叉反应。 由于受到技术及样本来源的限制，不可能完成对所有相关或相似物质交叉反应检测，因此本试剂盒有可能与未经检测的其它物质有交叉反应。 精密度 精密度用样品测定值的变异系数CV表示。 CV (%) = SD/mean×100 批内差：取同批次试剂盒对低、中、高值定值样本进行定量检测,每 … gina warren facebook