该基因编码锌指蛋白,在核苷酸切除修复(ner)中起中心作用,ner是一种特殊类型的dna修复。ner负责修复由化学致癌物和化学治疗药物引起的uv辐射引起的光产物和dna加合物。编码的蛋白质与dna和一些ner蛋白相互作用,在dna损伤部位作为组装ner切口复合体的支架。该基因突变导致着色性干皮病互补组(xp-a),一种常染色体隐性皮肤病,对阳光过敏,增加皮肤癌的风险。[由RefSeq提供,2017年8月]
This gene encodes a zinc finger protein plays a central role in nucleotide excision repair (NER), a specialized type of DNA repair. NER is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens and chemotherapeutic drugs. The encoded protein interacts with DNA and several NER proteins, acting as a scaffold to assemble the NER incision complex at sites of DNA damage. Mutations in this gene cause Xeroderma pigmentosum complementation group A (XP-A), an autosomal recessive skin disorder featuring hypersensitivity to sunlight and increased risk for skin cancer. [provided by RefSeq, Aug 2017]

基因名:XPA
别名:XP1,XPAC
基因ID:7507
Chromosome:
(GRCh37)
9 Start: 100437191 End: 100459691 Strand: 
信号通路:  
XPA 基因突变与药物

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