PRPH2(redirected from OTTHUMP00000016404)
PRPH2A gene on chromosome 6p21.2-cen that encodes peripherin 2, a member of the tetraspanin (cell surface) protein family, which mediate signal transduction events. These events play a role in regulating cell development, activation, growth and motility. Peripherin 2 is present in the outer segment of rod and cone photoreceptor cells, and it may act as an adhesion molecule involved in stabilisation and compaction of outer
segment disks or in the maintenance of the curvature of the rim. It is essential for disk morphogenesis.
Defects of PRPH2 are associated with a variety of retinal disorders, including adult-onset vitelliform macular dystrophy, central areolar choroidal dystrophy type 2, patterned dystrophy of retinal pigment epithelium, retinitis pigmentosa type 7, retinitis punctata albescens, as well as cone-rod dystrophy and macular degeneration.