Gene Symbol | ERCC8 |
Entrez Gene ID | 1161 |
Full Name | ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
Synonyms | CKN1,CSA,UVSS2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]. |
Disorder MIM: | |
Disorder Html: | Cockayne syndrome, type A, 216400 (3); UV-sensitive syndrome 2, 614621 (3) |