USH2A wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human USH2A wild-type allele is located in the vicinity of 1q41 and is approximately 801 kb in length. This allele, which encodes usherin protein, plays a role in hearing and sight. Mutations in the gene are associated with retinitis pigmentosa 39 and Usher syndrome type 2A.

**Synonyms:** - RP39 - US2 - USH2 - Usher Syndrome 2A (Autosomal Recessive, Mild) Gene - Usherin wt Allele - dJ1111A8.1