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The official name of this gene is “excision repair cross-complementation group 5.”
ERCC5 is the gene's official symbol. The ERCC5 gene is also known by other names, listed below.
This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]
Single-stranded structure-specific DNA endonuclease involved in DNA excision repair. Makes the 3'incision in DNA nucleotide excision repair (NER). Acts as a cofactor for a DNA glycosylase that removes oxidized pyrimidines from DNA. May also be involved in transcription-coupled repair of this kind of damage, in transcription by RNA polymerase II, and perhaps in other processes too.
Xeroderma pigmentosum complementation group G (XP-G): An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-G patients present features of Cockayne syndrome, cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex. The disease is caused by mutations affecting the gene represented in this entry.
|278780 (http://omim.org/entry/278780)||XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G|
|133530 (http://omim.org/entry/133530)||EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5|
Cytogenetic Location: 13q33
Molecular Location on chromosome 13: base pairs 102,845,840 to 102,876,000
The ERCC5 gene is located on the long (q) arm of chromosome 13 at position 33.
More precisely, the ERCC5 gene is located from base pair 102,845,840 to base pair 102,876,000 on chromosome 13.
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 ERCC5 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.
ataxia ; autosomal ; autosomal recessive ; cachectic ; cachexia ; cancer ; cofactor ; DNA ; DNA repair ; dwarfism ; endonuclease ; gene ; immunoglobulin ; mental retardation ; motif ; NER ; neurological ; nucleotide ; nucleotide excision repair ; phenotype ; pigmentation ; predisposition ; protein ; pyrimidines ; recessive ; RNA ; RNA polymerase ; susceptibility ; syndrome ; transcription
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://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.