PDZD7 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PDZD7 wild-type allele is located in the vicinity of 10q24.31 and is approximately 25 kb in length. This allele, which encodes PDZ domain-containing protein 7, plays a role in ciliary structure formation and modulation of G protein-coupled receptor signaling. Mutations in the gene are associated with autosomal recessive deafness 57, modification of retinal disease in Usher syndrome type 2A and digenic (GPR98/PDZD7) Usher syndrome type 2C.

**Synonyms:** - DFNB57 - Deafness, Autosomal Recessive 57 Gene - FLJ23209 - PDZ Domain Containing 7 wt Allele - PDZ Domain-Containing 7 Gene - PDZK7 - bA108L7.8