Description
Product Characteristics:
Probable E3 ubiquitin-protein ligase that may play a role in angiogenesis. May also have an ATPase activity.
Subcellular location: Cytoplasm
Synonyms: ALO17, MYMY2, MYSTR, NET57, C17orf27, KIAA1618, E3 ubiquitin-protein ligase RNF213, ALK lymphoma oligomerization partner on chromosome 17, Mysterin, RING finger protein 213, RNF213, KIAA1554
Target Information: 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]