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🧬 基因注释:RNF213

📝 官方信息

官方名称:ring finger protein 213

功能摘要: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].

🎯 作为靶基因的剪接因子
🏥 关联疾病
Moyamoya disease
(0.743)
migraine disorder
(0.462)
angina pectoris
(0.459)
genetic disorder
(0.437)
cancer
(0.390)
🔍 查看该基因的所有关联疾病
🔗 外部数据库链接