CTDP1 gene
The CTDP1 gene provides instructions for making a protein that regulates RNA polymerase II, a key enzyme in the process of gene transcription.
Normal Function
The CTDP1 gene provides instructions for making a protein called carboxy-terminal domain phosphatase 1. This protein helps regulate the activity of an enzyme called RNA polymerase II. The RNA polymerase II enzyme initiates transcription, which is a key step in using the information carried by genes to direct the production (synthesis) of proteins.
Health Conditions Related to Genetic Changes
Congenital cataracts, facial dysmorphism, and neuropathy
Thus far, everyone with CCFDN has had the same mutation in both copies of the CTDP1 gene in each cell. This mutation, written as IVS6+389C>T, alters the way the gene's instructions are pieced together to produce the carboxy-terminal domain phosphatase 1 protein. The altered instructions introduce a premature stop signal, resulting in an abnormally short, nonfunctional protein that cannot regulate transcription. Defective regulation of the transcription process affects the development and function of many parts of the body. It is not known how nonfunctional carboxy-terminal domain phosphatase 1 protein results in the specific signs and symptoms of CCFDN.
Other Names for This Gene
- CCFDN
- CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
- CTD of POLR2A, phosphatase of, subunit 1
- CTDP1_HUMAN
- FCP1
- RNA polymerase II subunit A C-terminal domain phosphatase
- RNA polymerase II subunit A C-terminal domain phosphatase isoform FCP1a
- RNA polymerase II subunit A C-terminal domain phosphatase isoform FCP1b
- serine phosphatase FCP1a
- TFIIF-associating CTD phosphatase 1
- transcription factor IIF-associating CTD phosphatase 1
Genomic Location
The CTDP1 gene is found on chromosome 18.