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Reviewed May 2010
What is the official name of the ERCC2 gene?
The official name of this gene is “excision repair cross-complementing rodent repair deficiency, complementation group 2.”
ERCC2 is the gene's official symbol. The ERCC2 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the ERCC2 gene?
The ERCC2 gene provides instructions for making a protein called XPD. This protein is an essential part (subunit) of a group of proteins known as the general transcription factor IIH (TFIIH) complex. The TFIIH complex has two major functions: it is involved in a process called gene transcription, and it helps repair damaged DNA.
Gene transcription is the first step in protein production. By controlling gene transcription, the TFIIH complex helps regulate the activity of many different genes. The XPD protein appears to stabilize the TFIIH complex. Studies suggest that the XPD protein works together with XPB, another protein in the TFIIH complex that is produced from the ERCC3 gene, to start (initiate) gene transcription.
The TFIIH complex also plays an important role in repairing damaged DNA. DNA can be damaged by ultraviolet (UV) rays from the sun and by toxic chemicals, radiation, and unstable molecules called free radicals. DNA damage occurs frequently, but normal cells are usually able to fix it before it can cause problems. One of the major mechanisms that cells use to fix DNA is known as nucleotide excision repair (NER). As part of this repair mechanism, the TFIIH complex separates the section of double-stranded DNA that surrounds the damage. The XPD protein helps with this process by acting as a helicase, which is an enzyme that attaches to particular regions of DNA and temporarily unwinds the two spiral strands. Once the damaged region has been exposed, other proteins snip out (excise) the abnormal section and replace the damaged area with the correct DNA.
How are changes in the ERCC2 gene related to health conditions?
Where is the ERCC2 gene located?
Cytogenetic Location: 19q13.3
Molecular Location on chromosome 19: base pairs 45,854,648 to 45,873,844
The ERCC2 gene is located on the long (q) arm of chromosome 19 at position 13.3.
More precisely, the ERCC2 gene is located from base pair 45,854,648 to base pair 45,873,844 on chromosome 19.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ERCC2?
You and your healthcare professional may find the following resources about ERCC2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the ERCC2 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding ERCC2?
cancer ; cell ; deficiency ; difficulty swallowing ; DNA ; DNA damage ; DNA repair ; enzyme ; free radicals ; gene ; gene transcription ; helicase ; NER ; nervous system ; neurological ; nucleotide ; nucleotide excision repair ; protein ; radiation ; RNA ; RNA polymerase ; sensitivity ; subunit ; syndrome ; toxic ; transcription ; transcription factor ; UV rays
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (11 links)
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? in the Handbook.