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Reviewed July 2012
What is the official name of the ERCC6 gene?
The official name of this gene is “excision repair cross-complementation group 6.”
ERCC6 is the gene's official symbol. The ERCC6 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 ERCC6 gene?
The ERCC6 gene provides instructions for making a protein commonly called the Cockayne syndrome B (CSB) protein. This protein is involved in repairing damaged DNA and appears to assist with gene transcription, which is the first step in protein production. Although the role of the CSB protein is not clearly understood, this protein might help to start (initiate) gene transcription and then monitor its progress.
DNA can be damaged by ultraviolet (UV) rays from the sun and by toxic chemicals, radiation, and unstable molecules called free radicals. If left uncorrected, DNA damage accumulates, which causes cells to malfunction and can lead to cell death. Although DNA damage occurs frequently, normal cells are usually able to fix it before it can cause problems. Cells have several mechanisms to correct DNA damage; one such mechanism involves the CSB protein. This protein specializes in repairing damaged DNA within active genes (those genes undergoing gene transcription). When DNA in active genes is damaged, the enzyme that carries out gene transcription (RNA polymerase) gets stuck, and the process stalls. Researchers think that the CSB protein helps remove RNA polymerase from the damaged site, so the DNA can be repaired. The CSB protein may also assist in restarting gene transcription after the damage is corrected.
How are changes in the ERCC6 gene related to health conditions?
Genetics Home Reference provides information about age-related macular degeneration, which is also associated with changes in the ERCC6 gene.
Where is the ERCC6 gene located?
Cytogenetic Location: 10q11.23
Molecular Location on chromosome 10: base pairs 49,454,479 to 49,539,122
The ERCC6 gene is located on the long (q) arm of chromosome 10 at position 11.23.
More precisely, the ERCC6 gene is located from base pair 49,454,479 to base pair 49,539,122 on chromosome 10.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ERCC6?
You and your healthcare professional may find the following resources about ERCC6 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 ERCC6 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 ERCC6?
acids ; amino acid ; arginine ; base excision repair ; cell ; chromatin ; chromatin remodeling ; DNA ; DNA damage ; DNA repair ; enzyme ; free radicals ; gene ; gene transcription ; mutation ; NER ; nucleotide ; nucleotide excision repair ; pigmentation ; protein ; radiation ; RNA ; RNA polymerase ; sensitivity ; sun sensitivity ; syndrome ; toxic ; transcription ; UV rays
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (14 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.