Excision-Repair, Complementing Defective, in Chinese Hamster, 5

Alternative Names

  • ERCC5
  • ERCM2
  • UV Damage, Excision Repair of, UV-135; UVDR
  • Ultraviolet Sensitivity, Mouse, Complementation of
  • RAD2, Yeast, Homolog of
  • Xeroderma Pigmentosum, Group G Correcting Protein; XPGC
  • XPG
  • Xeroderma Pigmentosum/Cockayne Syndrome Complex
  • XPG/CS
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OMIM Number

133530

NCBI Gene ID

2073

Uniprot ID

P28715

Length

68,856 bases

No. of Exons

15

No. of isoforms

3

Protein Name

DNA repair protein complementing XP-G cells

Molecular Mass

133108 Da

Amino Acid Count

1186

Genomic Location

chr13:102,807,146-102,876,001

Gene Map Locus
13q33

Description

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, cognitive disability, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000123.4:c.205C>TUnited Arab EmiratesNC_000013.11:g.102852234C>TPathogenicXeroderma Pigmentosum, Complementation Group GNG_007146.1:g.11411C>T; NM_000123.4:c.205C>T; NP_000114.3:p.Arg69Ter1882232971
NM_000123.4:c.2902T>CUnited Arab EmiratesNC_000013.11:g.102873281T>CUncertain SignificanceCerebrooculofacioskeletal Syndrome 3NG_007146.1:g.32458T>C; NM_000123.4:c.2902T>C; NP_000114.3:p.Trp968Arg
NM_000123.4:c.542A>GLebanonNC_000013.11:g.102858288A>GUncertain SignificanceUncertain SignificanceBreast CancerNG_007146.1:g.17465A>G; NM_000123.4:c.542A>G; NP_000114.2:p.His181Arg4150295310914
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