PRPH2 Antibody – Rabbit Polyclonal

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 hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. 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 retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008]

PRPH2: May function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. It is essential for disk morphogenesis. Defects in PRPH2 are the cause of retinitis pigmentosa type 7 (RP7). RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Defects in PRPH2 are a cause of retinitis punctata albescens (RPA). Defects in PRPH2 are a cause of adult-onset vitelliform macular dystrophy (AVMD). AVMD is a rare autosomal dominant disorder with incomplete penetrance and highly variable expression. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted disease of decreased visual acuity. Defects in PRPH2 are a cause of patterned dystrophy of retinal pigment epithelium (PDREP). Patterned dystrophies of the retinal pigment epithelium (RPE) refer to a heterogeneous group of macular disorders. Three main types of PDREP have been described: reticular (fishnet-like) dystrophy, macroreticular (spider-shaped) dystrophy and butterfly-shaped pigment dystrophy. Defects in PRPH2 are a cause of choroidal dystrophy central areolar type 2 (CACD2). It is a disorder which affects the posterior pole of the eye, and early lesions consist of a non-specific area of granular hyperpigmentation at the fovea. The characteristic sign of the disorder, a zone of atrophy that develops in the macula of the eye and involves the retinal pigment epithelium and the choriocapillaris, occurs several decades after onset. Defects in PRPH2 are found in different retinal diseases including cone-rod dystrophy, retinitis pigmentosa, macular degeneration. The mutations underlying autosomal dominant retinitis pigmentosa and severe macular degeneration are largely missense or small in-frame deletions in a large intradiscal loop between the third and fourth transmembrane domains. In contrast, those associated with the milder pattern phenotypes or with digenic RP are scattered more evenly through the gene and are often nonsense mutations. This observation correlates with the hypothesis that the large loop is an important site of interaction between PRPH2 molecules and other protein components in the disk. Belongs to the PRPH2/ROM1 family.

Protein type: Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 6p21.1

Cellular Component: integral to membrane

Biological Process: visual perception; retina development in camera-type eye; cell adhesion; response to low light intensity

Disease: Fundus Albipunctatus; Macular Dystrophy, Patterned, 1; Macular Dystrophy, Vitelliform, 3; Retinitis Pigmentosa 7; Choroidal Dystrophy, Central Areolar 2