Uniprot Description
RNF213: 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: Oncoprotein; EC 6.3.2.-; Ubiquitin conjugating system
Chromosomal Location of Human Ortholog: 17q25.3
Cellular Component: membrane; cytoplasm; nucleolus
Molecular Function: zinc ion binding; ATPase activity; ubiquitin-protein ligase activity; ligase activity
Biological Process: protein autoubiquitination; protein ubiquitination
Product Notes
The KIAA1618 rnf213 (Catalog #
AAA839109) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. AAA Biotech's KIAA1618 can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB). WB: 0.2-1 ug/ml. Researchers should empirically determine the suitability of the KIAA1618 rnf213 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process.
It is sometimes possible for the material contained within the vial of
"KIAA1618, Polyclonal Antibody" to become dispersed throughout the inside of
the vial, particularly around the seal of said vial, during shipment and storage. We always
suggest centrifuging these vials
to consolidate all of the liquid away from the lid and to the bottom of the vial prior to
opening. Please be advised that
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