Peripherin-2
WebPeripherin 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 … WebPeripherin-2 (also known as peripherin/rds), a photoreceptor specific tetraspanin protein, is required to maintain normal cell structure through its role in renewal processes requiring membrane fusion. It is the first tetraspanin fusogen and has been shown to directly mediate fusion between disk membranes and
Peripherin-2
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http://www.informatics.jax.org/marker/MGI:102791 WebPeripherin-2 is a multi-pass membrane glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It is localized to the photoreceptor disc rim region and is required for the initial formation and subsequent maintenance of …
WebFamilial adenomatous polyposis (FAP) is an autosomal dominant inherited condition in which numerous adenomatous polyps form mainly in the epithelium of the large intestine.While these polyps start out benign, … WebAug 28, 2014 · The peripherin-2 (PRPH2) gene encodes a photoreceptor-specific tetraspanin protein called peripherin-2/retinal degeneration slow (RDS), which is critical for the formation and maintenance of rod and cone outer segments. Over 90 different disease-causing mutations in PRPH2 have been identified, which …
WebPeripherin is an important protein that regulates the formation and renewal of photoreceptor disc outer segments. It is an integral membrane protein consisting of 346 amino acids that is localized to the rim region of rod and cone outer segments.60 It also complexes with a homologous protein called ROM1. WebPeripherin-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 Mreglocus. Genetic studies suggest that MREG is involved in organelle biogenesis.
WebPeripherin-2 (UniProt: P15499; also known as Retinal degeneration slow protein) is encoded by the Prph2 (also known as Rds) gene (Gene ID: 19133) in murine species. Peripherin-2 …
WebPeripherin 2 (PRPH2), also known as RDS (retinal degeneration slow) is a photoreceptor specific glycoprotein which is essential for normal photoreceptor health and vision. PRPH2/RDS is necessary for the proper formation of both rod and cone photoreceptor outer segments, the organelle specialized for … motor vehicle johnson county ksWebThe identification of an exon-2 peripherin mutation in a family with heterogeneous manifestations of a butterfly pattern macular dystrophy. (Abstract) Am. J. Hum. Genet. 53 … motor vehicle jobs in delawareWebNov 18, 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 … healthy food for truck driversWebEvaluation of rectal biopsies for ganglion cells is performed for patients suspected of having Hirschsprung disease. At times, identification of ganglion cells can be difficult, especially in newborns. To assist in diagnosis, frozen tissue can be collected for acetylcholinesterase histochemical staining. At our institution, we developed a protocol using peripherin and S … healthy food fort lauderdalemotor vehicle key sign-out logWebNov 9, 2024 · Mammalian peripherin-2 (PRPH2) and rod outer segment membrane protein 1 (ROM1) are retina-specific tetraspanins that partake in the constant renewal of stacked … motor vehicle job applicationWebThis protein plays an important role in normal vision. Peripherin 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 that detect light and color. Within these cells, peripherin 2 is involved in the formation and stability motor vehicle kerala