Excision Repair, Complementing Defective in, Chinese Hamster, 3

Alternative Names

  • ERCC3
  • XPB GENE
  • XPB
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OMIM Number

133510

NCBI Gene ID

2071

Uniprot ID

P19447

Length

36,877 bases

No. of Exons

15

No. of isoforms

1

Protein Name

General transcription and DNA repair factor IIH helicase subunit XPB

Molecular Mass

89278 Da

Amino Acid Count

782

Genomic Location

chr2:127,257,290-127,294,166

Gene Map Locus
2q14.3

Description

This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001303416.2:c.508C>TLebanonchr2:127289459Uncertain SignificanceBreast CancerNG_007454.1:g.9718C>T; NM_001303416.2:c.508C>T; NP_001290347.1:p.Arg170Ter980899348
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