PRPH2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PRPH2 wild-type allele is located in the vicinity of 6p21.1 and is approximately 26 kb in length. This allele, which encodes peripherin-2 protein, plays a role in the formation of the outer segment disc in rod and cone photoreceptor cells. Mutations in the gene are associated with central areolar choroidal dystrophy 2, retinitis pigmentosa 7 (Leber congenital amaurosis 18), patterned macular dystrophy 1, vitelliform macular dystrophy 3, and retinitis punctata albescens.

**Synonyms:** - AOFMD - AVMD - CACD2 - Choroidal Dystrophy, Central Areolar 2 Gene - DS - MDBS1 - PRPH - Peripherin 2 (Retinal Degeneration, Slow) Gene - Peripherin 2 wt Allele - Peripherin 2, Homolog of Mouse Gene - Peripherin 2, Mouse, Homolog of Gene - Peripherin, Photoreceptor Type Gene - RDS - RDS, Mouse, Homolog of Gene - RP7 - Retinal Degeneration, Slow (Retinitis Pigmentosa 7) Gene - Retinal Degeneration, Slow Gene - Retinal Degeneration, Slow, Mouse, Homolog of Gene - Retinal Peripherin Gene - TSPAN22 - rd2