POLR3A wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human POLR3A wild-type allele is located in the vicinity of 10q22.3 and is approximately 76 kb in length. This allele, which encodes DNA-directed RNA polymerase III subunit RPC1 protein, plays a role in the synthesis of 5S ribosomal RNA, small nuclear RNAs, transfer RNAs and microRNAs. Mutations in the gene are associated with neonatal progeroid (Wiedemann-Rautenstrauch) syndrome and hypomyelinating leukodystrophy 7, with or without oligodontia and/or hypogonadotropic hypogonadism.

**Synonyms:** - ADDH - C160 - HLD7 - Polymerase (RNA) III (DNA Directed) Polypeptide A, 155kDa Gene - Polymerase (RNA) III Subunit A Gene - Polymerase III, RNA, Subunit A Gene - RNA Polymerase III Subunit A wt Allele - RNA Polymerase III, 155-kD Subunit Gene - RNA Polymerase III, Subunit C1 Gene - RPC1 - RPC155 - WDRTS - hRPC155