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ERCC6 - ERCC excision repair 6, chromatin remodeling factor
- Synonym(s) : ARMD5, Cockayne syndrome B protein, CSB, RAD26
- Previous symbols and names : CKN2, excision repair cross-complementation group 6, excision repair cross-complementing rodent repair deficiency, complementation group 6
- Type : gene with protein product
- Chromosomal location : 10q11.23
- OMIM: 609413
- HGNC: 3438
- UniProtKB: Q03468
- Genatlas: ERCC6
- GenCC: ERCC6
- Ensembl: ENSG00000225830
- IUPHAR-DB: -
- Reactome: Q03468
- LOVD: ERCC6
Diseases list
- Disease-causing germline mutation(s) in COFS syndrome
ORPHA:1466 
- Disease-causing germline mutation(s) in NON RARE IN EUROPE: Primary ovarian failure
ORPHA:619 - Disease-causing germline mutation(s) in UV-sensitive syndrome
ORPHA:178338 - Disease-causing germline mutation(s) (loss of function) in Cockayne syndrome type 1
ORPHA:90321 - Disease-causing germline mutation(s) (loss of function) in Cockayne syndrome type 2
ORPHA:90322 - Disease-causing germline mutation(s) (loss of function) in Cockayne syndrome type 3
ORPHA:90324
: AssessedAdditional information
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