This gene encodes a protein which interacts with the carboxy-terminus of the RAP74 subunit of transcription initiation factor TFIIF, and functions as a phosphatase that processively dephosphorylates the C-terminus of POLR2A (a subunit of RNA polymerase II), making it available for initiation of gene expression. Mutations in this gene are associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN). Alternatively spliced transcript variants encoding different isoforms have been described for this gene.
Immunogen Information
Immunogen
Synthetic peptide of human CTDP1
Swissprot
Q9Y5B0
Synonyms
CCFDNCTD (carboxy-terminal domainRNA polymerase IIpolypeptide A) phosphatasesubunit 1CTD of POLR2Aphosphatase ofsubunit 1CTDP1CTDP1EC 3.1.3.16RNA polymerase II subunit A C terminal domain phosphataseRNA polymerase II subunit A C-terminal