Description
Product Characteristics:
Aliases: ALK lymphoma oligomerization partner on chromosome 17 antibody, C17orf27 antibody, Chromosome 17 open reading frame 27 antibody, E3 ubiquitin-protein ligase RNF213 antibody, FLJ13051 antibody, KIAA1554 antibody, MGC46622 antibody, MGC9929 antibody, MYMY2 antibody, Mysterin antibody, MYSTR antibody, NET57 antibody, RING finger protein 213 antibody, RN213_HUMAN antibody, RNF 213 antibody, RNF213 antibody
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]