Peripherin

Predicted to enable structural molecule activity. Acts upstream of or within intermediate filament cytoskeleton organization. Located in C-fiber; intermediate filament; and photoreceptor outer segment membrane. Is expressed in several structures, including alimentary system; nervous system; and olfactory system. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis type 1. Orthologous to human PRPH (peripherin).

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.