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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. Anti-Peripherin-2 Antibody, clone 5H2 Anti-Peripherin-2, clone 5H2, Cat. No. MABN2435, is a highly specific mouse monoclonal antibody that targets Peripherin-2 and has been tested in Immunofluorescence, Radioimmunoassay, and Western Blotting. - Find MSDS or SDS, a COA, data sheets and more information. Novel localization of peripherin 2, the photoreceptor-specific retinal degeneration slow protein, in retinal pigment epithelium.

Peripherin-2 being a multifunctional protein and mutations in peripherin/RDS gene results in a broad spectrum of retinal disorders like macular dystrophies, cone and cone-rod dystrophies and retinitis pigmentosa. Importance: Screening for splice site mutation c.828+3A>T in the peripherin 2 (PRPH2) gene should be a high priority in families with highly variable retinal dystrophies. The correction of missplicing is a potential therapeutic target. Objective: To determine the prevalence, genetic origin, and molecular mechanism of a donor c.828+3A>T mutation in the PRPH2 (peripherin 2, retinal degeneration 1992-03-01 2017-05-24 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 features with other tetraspanins, including a large intradiscal loop which contains several cysteines. This loop enables Prph2 to associate with itself to form homo-oligomers or with its homologue, rod outer segment membrane protein 1 Peripherin-2 (PRPH2) plays a role in the formation of the outer segment disc rim, and loss of PRPH2 leads to the absence of outer segment discs (Cohen, 1983;Goldberg et al., 2016).

Function i Multistep peripherin-2/rds self-assembly drives membrane curvature for outer segment disk architecture and photoreceptor viability. Milstein ML, Cavanaugh BL, Roussey NM, Volland S, Williams DS, Goldberg AFXMilstein ML, et al.

PERIPHERIN. - Avhandlingar.se

Human Molecular Genetics, 2014. Uwe Wolfrum. Elisabeth Butz. S. Hauck.

Periferin 2 - Peripherin 2 - qaz.wiki

Essential for ▼ Description PRPH2 and ROM1 (180721) are tetraspanning membrane proteins that assemble into noncovalent tetramers and higher order disulfide-linked oligomers and are involved in photoreceptor disc morphogenesis (Loewen et al., 2001).

Mutationen verursachen autosomal rezessive oder dominante Lebersche kongenitale Amaurose Typ 18. Peripherin-2 couples the CNG channel to the phototransduction cascade in rod OS. (A) Simplified paradigm of protein–protein interactions in the disk rim region of OS. Peripherin-2 simultaneously binds to its homolog ROM1, to CNGB1a and to rhodopsin. View application images and datasheets for 40 anti Peripherin-2 Antibody antibodies from 14 leading antibody suppliers, plus reviews and the top related antibodies 2.5.2 Role of Peripherin in Other Neurodegenerative Diseases.
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Novel localization of peripherin 2, the photoreceptor-specific retinal degeneration slow protein, in retinal pigment epithelium. International journal of molecular sciences, 2015. Cornelia Deeg. Patrizia Uhl. Cornelia Deeg. Patrizia Uhl. PDF. Download Free PDF. Peripherin 2 is found in the retina, the light-sensitive tissue that lines the back of the eye.

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Mutationen verursachen autosomal rezessive oder dominante Lebersche kongenitale Amaurose Typ 18. NX_P23942 - PRPH2 - Peripherin-2 - Function.