CTDP1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CTDP1 wild-type allele is located in the vicinity of 18q23 and is approximately 80 kb in length. This allele, which encodes RNA polymerase II subunit A C-terminal domain phosphatase protein, is involved in dephosphorylation of RNA polymerase II subunit A (POLR2A), which upregulates POLR2A activity. Mutation of the gene is associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN).

**Synonyms:** - C-Terminal Domain of RNA Polymerase II Subunit A, Phosphatase of, Subunit 1 Gene - CCFDN - CTD (Carboxy-Terminal Domain, RNA Polymerase II, Polypeptide A) Phosphatase, Subunit 1 Gene - CTD Phosphatase Subunit 1 wt Allele - CTD of POLR2A, Phosphatase of, Subunit 1 Gene - FCP1