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RNF213
ring finger protein 213
RNF213 is 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.
| Gene Name: | ring finger protein 213 |
| Synonyms: | RNF213, C17orf27, KIAA1618, KIAA1554, Mysterin, MYSTR, ALO17, Moyamoya disease 2, MYMY2, NET57, Ring finger protein 213 |
| Target Sequences: | NM_020954 NP_066005.2 Q63HN8 |
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