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Genetics Home Reference: your guide to understanding genetic conditions
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ERCC5

The information on this page was automatically extracted from online scientific databases.

What is the official name of the ERCC5 gene?

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.

What is the normal function of the ERCC5 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2073):

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]

From UniProt (http://www.uniprot.org/uniprot/P28715):

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.

How are changes in the ERCC5 gene related to health conditions?

Genetics Home Reference provides information about xeroderma pigmentosum, which is associated with changes in the ERCC5 gene.
UniProt (http://www.uniprot.org/uniprot/P28715) provides the following information about the ERCC5 gene's known or predicted involvement in human disease.

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.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2073) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the ERCC5 gene.
  • Xeroderma pigmentosum, group G
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the ERCC5 gene and its association with health conditions.
OMIM
Number
Title

Where is the ERCC5 gene located?

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.

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.

Where can I find additional information about ERCC5?

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.

What other names do people use for the ERCC5 gene or gene products?

  • COFS3
  • ERCC5-201
  • ERCM2
  • UVDR
  • XPG
  • XPGC

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding ERCC5?

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.

 
Published: January 27, 2015