ERCC6

该基因编码一种dna结合蛋白,在转录偶联切除修复中起重要作用。编码蛋白具有ATP刺激的ATP酶活性,与多种转录和切除修复蛋白相互作用,可能促进DNA修复位点复合物的形成该基因突变与B型Cockayne综合征和1型脑-颌面神经综合征有关。选择性剪接发生在该基因第5外显子到邻近基因piggyback-derived-3(GeneID:267004)的开放阅读框(ORF)上游3'剪接位点之间,该剪接位点激活piggyback-derived-3 ORF下游的选择性聚腺苷酸化位点产生的转录本编码一种融合蛋白,该蛋白与每个单独基因的产物共享序列[由RefSeq提供,2016年3月]
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. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016]

别名

CSB,CKN2,COFS,ARMD5,COFS1,POF11,RAD26,UVSS1,CSB-PGBD3

基因id

Chromosome:10 Start: 50662526 End: 50747169 Strand: 

药物

突变与药物

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相关基因检测

genes