POLR1A wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human POLR1A wild-type allele is located in the vicinity of 2p11.2 and is approximately 86 kb in length. This allele, which encodes DNA-directed RNA polymerase I subunit RPA1 protein, plays a role in the transcription of ribosomal RNA. Mutation of the gene is associated with Cincinnati type acrofacial dysostosis.

**Synonyms:** - A190 - AFDCIN - DKFZP586M0122 - FLJ21915 - Polymerase (RNA) I Polypeptide A, 194kDa Gene - Polymerase (RNA) I Subunit A Gene - Polymerase I, RNA, Subunit A Gene - RNA Polymerase I Subunit A wt Allele - RNA Polymerase I, 194-kD Subunit Gene - RPA1 - RPA190 - RPA194 - RPO1-4 - RPO14