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Reviewed July 2012
What is the official name of the ERCC8 gene?
The official name of this gene is “excision repair cross-complementing rodent repair deficiency, complementation group 8.”
ERCC8 is the gene's official symbol. The ERCC8 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 ERCC8 gene?
The ERCC8 gene provides instructions for making a protein commonly called the Cockayne syndrome A (CSA) protein. Little is known about the function of this protein, although it is involved 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. The damage caused by these agents can block vital cell activities such as gene transcription, which is the first step in protein production. 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 CSA protein. This protein specializes in repairing damaged DNA within active genes (those genes undergoing gene transcription). However, its specific role in this process is unclear. The CSA protein interacts with other proteins, probably to identify areas of damaged DNA.
How are changes in the ERCC8 gene related to health conditions?
Where is the ERCC8 gene located?
Cytogenetic Location: 5q12.1
Molecular Location on chromosome 5: base pairs 60,169,658 to 60,240,904
The ERCC8 gene is located on the long (q) arm of chromosome 5 at position 12.1.
More precisely, the ERCC8 gene is located from base pair 60,169,658 to base pair 60,240,904 on chromosome 5.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ERCC8?
You and your healthcare professional may find the following resources about ERCC8 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 ERCC8 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 ERCC8?
acids ; amino acid ; cell ; deficiency ; DNA ; DNA damage ; DNA repair ; free radicals ; gene ; gene transcription ; mutation ; NER ; nucleotide ; nucleotide excision repair ; pigmentation ; protein ; radiation ; 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 (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.