Gene Symbol | ERCC3 |
Entrez Gene ID | 2071 |
Full Name | ERCC excision repair 3, TFIIH core complex helicase subunit |
Synonyms | BTF2,GTF2H,RAD25,TFIIH,TTD2,XPB |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Xeroderma pigmentosum, group B, 610651 (3); Trichothiodystrophy 2, photosensitive, 616390 (3) |