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ERCC2 - ERCC excision repair 2, TFIIH core complex helicase subunit
- Synonym(s) : EM9, excision repair cross-complementing rodent repair deficiency, complementation group 2 protein, MAG, MGC102762, MGC126218, MGC126219, TFIIH, TFIIH basal transcription factor complex helicase XPB subunit
- Previous symbols and names : XPD, excision repair cross-complementation group 2, excision repair cross-complementing rodent repair deficiency, complementation group 2, xeroderma pigmentosum complementary group D
- Type : gene with protein product
- Chromosomal location : 19q13.32
- OMIM: 126340
- HGNC: 3434
- UniProtKB: P18074
- Genatlas: ERCC2
- GenCC: ERCC2
- Ensembl: ENSG00000104884
- IUPHAR-DB: -
- Reactome: P18074
- LOVD: ERCC2
Diseases list
- Disease-causing germline mutation(s) in COFS syndrome
ORPHA:1466 
- Disease-causing germline mutation(s) in Trichothiodystrophy
ORPHA:33364 - Disease-causing germline mutation(s) in Xeroderma pigmentosum
ORPHA:910 - Disease-causing germline mutation(s) in Xeroderma pigmentosum-Cockayne syndrome complex
ORPHA:220295
: AssessedAdditional information
Patient-centred resources for this gene
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Specialised Social Services
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