PSMC3 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PSMC3 wild-type allele is located in the vicinity of 11p11.2 and is approximately 8 kb in length. This allele, which encodes 26S proteasome regulatory subunit 6A protein, is involved in the degradation of ubiquitinated proteins. Mutation of the gene is associated with autosomal recessive deafness, cataract, impaired intellectual development and polyneuropathy (DCIDP).

**Synonyms:** - DCIDP - Proteasome (Prosome, Macropain) 26S Subunit, ATPase, 3 Gene - Proteasome 26S Subunit, ATPase 3 wt Allele - Proteasome 26S Subunit, ATPase, 3 Gene - RPT5 - TBP1