Gene Symbol | ERCC4 |
Entrez Gene ID | 2072 |
Full Name | ERCC excision repair 4, endonuclease catalytic subunit |
Synonyms | ERCC11,FANCQ,RAD1,XFEPS,XPF |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009]. |
Disorder MIM: | |
Disorder Html: | Xeroderma pigmentosum, group F, 278760 (3); ?XFE progeroid syndrome, 610965 (3); Fanconi anemia, complementation group Q, 615272 (3); Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 (3) |