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Reviewed May 2010
What is the official name of the ERCC3 gene?
The official name of this gene is “excision repair cross-complementing rodent repair deficiency, complementation group 3.”
ERCC3 is the gene's official symbol. The ERCC3 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 ERCC3 gene?
The ERCC3 gene provides instructions for making a protein called XPB. 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. Studies suggest that the XPB protein works together with XPD, another protein in the TFIIH complex that is produced from the ERCC2 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 unwinds the section of double-stranded DNA that surrounds the damage. Studies suggest that the XPB protein may act as a wedge, holding open the two strands of DNA so other proteins can snip out (excise) the abnormal section and replace the damaged area with the correct DNA.
How are changes in the ERCC3 gene related to health conditions?
Where is the ERCC3 gene located?
Cytogenetic Location: 2q21
Molecular Location on chromosome 2: base pairs 127,257,289 to 127,294,175
The ERCC3 gene is located on the long (q) arm of chromosome 2 at position 21.
More precisely, the ERCC3 gene is located from base pair 127,257,289 to base pair 127,294,175 on chromosome 2.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ERCC3?
You and your healthcare professional may find the following resources about ERCC3 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 ERCC3 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 ERCC3?
amino acid ; cancer ; cell ; deficiency ; DNA ; DNA damage ; DNA repair ; free radicals ; gene ; gene transcription ; helicase ; mutation ; NER ; neurological ; nucleotide ; nucleotide excision repair ; phenylalanine ; protein ; radiation ; RNA ; RNA polymerase ; sensitivity ; serine ; short stature ; stature ; subunit ; sun sensitivity ; syndrome ; threonine ; 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 (9 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.