ALO17 (KIAA1618) ELISA Kit for Human

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]

RNF213 iso5: Probable E3 ubiquitin-protein ligase that may play a role in angiogenesis. May also have an ATPase activity. Defects in RNF213 are the cause of susceptibility to Moyamoya disease type 2 (MYMY2). A progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. A chromosomal aberration involving ALO17 is associated with anaplastic large-cell lymphoma (ALCL). Translocation t(2;17)(p23;q25) with ALK. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 6.3.2.-; Oncoprotein; Ubiquitin conjugating system

Chromosomal Location of Human Ortholog: 17q25.3

Cellular Component: cytoplasm; cytosol; membrane; nucleolus

Molecular Function: ATPase activity; metal ion binding; ubiquitin-protein transferase activity

Biological Process: angiogenesis; negative regulation of non-canonical Wnt signaling pathway; protein autoubiquitination; protein homooligomerization; protein polyubiquitination; protein ubiquitination; sprouting angiogenesis; ubiquitin-dependent protein catabolic process

Disease: Moyamoya Disease 2