靶标:
RNF213
产品别名:
ALO17; C17orf27; KIAA1618; MYMY2; MYSTR; NET57; RNF213; ring finger protein 213; ring finger protein 213; E3 ubiquitin-protein ligase RNF213; ALK lymphoma oligomerization partner on chromosome 17; E3 ubiquitin-lipopolysaccharide ligase RNF213; RING-type E3 ubiquitin transferase RNF213; mysterin; KIAA1618蛋白; 环指蛋白213;
背景信息:
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],