Aliases for PRPH2 Gene
External Ids for PRPH2 Gene
Previous Symbols for PRPH2 Gene
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]
GeneCards Summary for PRPH2 Gene
PRPH2 (Peripherin 2 (Retinal Degeneration, Slow)) is a Protein Coding gene. Diseases associated with PRPH2 include partial central choroid dystrophy and butterfly-shaped pigment dystrophy. Among its related pathways are Amyotrophic lateral sclerosis (ALS) and Cytoskeleton remodeling Neurofilaments. An important paralog of this gene is ROM1.
UniProtKB/Swiss-Prot for PRPH2 Gene
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