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The official name of this gene is “CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1.”
CTDP1 is the gene's official symbol. The CTDP1 gene is also known by other names, listed below.
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.
The CTDP1 gene belongs to a family of genes called serine/threonine phosphatases (serine/threonine phosphatases).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
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.
Cytogenetic Location: 18q23
Molecular Location on chromosome 18: base pairs 79,679,800 to 79,754,509
The CTDP1 gene is located on the long (q) arm of chromosome 18 at position 23.
More precisely, the CTDP1 gene is located from base pair 79,679,800 to base pair 79,754,509 on chromosome 18.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about CTDP1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
cell ; congenital ; domain ; enzyme ; gene ; mutation ; neuropathy ; phosphatase ; protein ; RNA ; RNA polymerase ; serine ; subunit ; synthesis ; transcription ; transcription factor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.