靶标:
ERCC8
产品别名:
CKN1; CSA; UVSS2; ERCC8; ERCC excision repair 8, CSA ubiquitin ligase complex subunit; ERCC excision repair 8, CSA ubiquitin ligase complex subunit; DNA excision repair protein ERCC-8; Cockayne syndrome WD-repeat protein CSA; cockayne syndrome WD repeat protein CSA; excision repair cross-complementation group 8; excision repair cross-complementing rodent repair deficiency, complementation group 8; 科凯恩氏综合症相关蛋白/早衰蛋白CSA;
背景信息:
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.