Products

Western Blot

Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

PRPH2

Gene Alias

AOFMD, AVMD, PRPH, RDS, RP7, TSPAN22, rd2

Gene Description

peripherin 2 (retinal degeneration, slow)

Omim ID

Gene Ontology

Gene Summary

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

Other Designations

OTTHUMP00000016404|peripherin 2|peripherin 2, homolog of mouse|peripherin, photoreceptor type|retinal peripherin|tetraspanin-22