Peripherin 2/PRPH2 Products

Description

The protein encoded by the PRPH2 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)

Bioinformatics

Entrez	5961 Human
Uniprot	AAH74720.1 Human NM_000322 Human
Product By Gene ID	5961
Alternate Names	AOFMD AVMD CACD2peripherin 2, homolog of mouse DS peripherin 2 (retinal degeneration, slow) peripherin-2 PRPHperipherin, photoreceptor type rd2 RDS Retinal degeneration slow protein retinal degeneration, slow retinal peripherin RP7 Tetraspanin-22 tetraspanin-22 tspan-22 Tspan-22 TSPAN22retinal degeneration, slow (retinitis pigmentosa 7)