基因名:
ERCC6
产品别名:
ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3; POF11; RAD26; UVSS1; ERCC6; ERCC excision repair 6, chromatin remodeling factor; ERCC excision repair 6, chromatin remodeling factor; DNA excision repair protein ERCC-6; ERCC6-PGBD3 fusion protein; ATP-dependent helicase ERCC6; Chimeric CSB-PGBD3 protein; Chimeric ERCC6-PGBD3 protein; Cockayne syndrome group B protein; cockayne syndrome protein CSB; excision repair cross-complementation group 6; excision repair cross-complementing rodent repair deficiency, complementation group 6; ATP依赖解旋酶ERCC6; 剪切修复交叉互补修复缺陷偶联因子6(ERCC6);
背景信息:
This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Naturally-occurring readthrough transcription occurs between this gene and the adjacent PGBD3 gene (GeneID:267004), and results in a fusion protein that shares sequence with the product of each individual gene. The readthrough locus is represented by GeneID:101243544. [provided by RefSeq, Mar 2013]