Preferred Label : CTDP1 wt Allele;
NCIt synonyms : CCFDN; C-Terminal Domain of RNA Polymerase II Subunit A, Phosphatase of, Subunit 1 Gene; CTD Phosphatase Subunit 1 wt Allele; FCP1; CTD (Carboxy-Terminal Domain, RNA Polymerase II, Polypeptide A) Phosphatase, Subunit
1 Gene; CTD of POLR2A, Phosphatase of, Subunit 1 Gene;
NCIt 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).;
NCIt note : Alternatively spliced transcript variants encoding at least two different isoforms
have been described for the human CTDP1 gene. (EntrezGene);
NCI Metathesaurus CUI : CL1907392;
GenBank Accession Number : AF081287;
Origin ID : C200380;
UMLS CUI : C5849120;
OMIM relation
- Semantic type(s)
- gene_found_in_organism
- gene_plays_role_in_process
