OPHN1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human OPHN1 wild-type allele is located in the vicinity of Xq12 and is approximately 392 kb in length. This allele, which encodes oligophrenin-1 protein, is involved in the regulation of small GTPase mediated signal transduction. Mutation of the gene is associated with X-linked mental retardation with cerebellar hypoplasia and distinctive facial dysmorhphism.

**Synonyms:** - ARHGAP41 - MRX60 - Mental Retardation, X-Linked 60 Gene - OPN1 - Oligophrenin 1 wt Allele - Oligophrenin-1, Rho-GTPase Activating Protein Gene