CC2D2A wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CC2D2A wild-type allele is located in the vicinity of 4p15.32 and is approximately 132 kb in length. This allele, which encodes coiled-coil and C2 domain-containing protein 2A, plays a role in ciliogenesis and sonic hedgehog (SHH) signaling. Mutation of the gene is associated with retinitis pigmentosa 93, Meckel syndrome type 6, Joubert syndrome type 9 and cerebellar vermis hypoplasia, oligophrenia, ataxia, colobomas, and hepatic fibrosis (COACH) syndrome 2.

**Synonyms:** - COACH2 - Coiled-Coil and C2 Domain Containing 2A wt Allele - JBTS9 - KIAA1345 - MKS6 - Meckel Syndrome, Type 6 Gene - RP93