RNF213

该基因编码一种含有c3hc4型无名指结构域的蛋白质,该结构域是结合两个锌原子的锌指的一种特殊类型,被认为参与介导蛋白质与蛋白质的相互作用。该蛋白还包含一个AAA结构域,与ATPase活性相关该基因是烟雾病(一种颅内动脉血管疾病)的易感基因。在间变性大细胞淋巴瘤和炎性肌纤维母细胞瘤病例中,该基因也是一个易位伙伴,其中T(2;17)(p23;q25)易位已被鉴定为2号染色体上的间变性淋巴瘤激酶(ALK)基因,T(8;17)(q24;q25)易位已被鉴定为8号染色体上的myc基因。选择性剪接导致多个转录变体[由RefSeq提供,2011年12月]
This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. The protein also contains an AAA domain, which is associated with ATPase activity. This gene is a susceptibility gene for Moyamoya disease, a vascular disorder of intracranial arteries. This gene is also a translocation partner in anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8;17)(q24;q25) translocation has been identified with the MYC gene on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]

别名

ALO17,MYMY2,MYSTR,NET57,C17orf27,KIAA1618

基因id

Chromosome:17 Start: 78234643 End: 78372586 Strand: 

药物

突变与药物

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