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ERCC3 excision repair cross-complementation group 3

Also known as: XPB; BTF2; GTF2H; RAD25; TFIIH

Summary

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. [provided by RefSeq, Dec 2014]

Genomic context

Location:
2q21
Sequence:
Chromosome: 2; NC_000002.12 (127257290..127294176, complement)
Total number of exons:
15

Links

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