Home
>
Product
>
Antibody
>
Rabbit Anti-KIAA1618 antibody
There are three isoforms. A chromosomal aberration involving KIAA1618 is associated with anaplastic large-cell lymphoma (ALCL). Translocation t(2;17)(p23;q25) with ALK.
Function:
Probable E3 ubiquitin-protein ligase that may play a role in angiogenesis. May also have an ATPase activity.
Subcellular Location:
Cytoplasm
Tissue Specificity:
Widely expressed (at protein level).
Post-translational modifications:
Autoubiquitinates.
DISEASE:
Moyamoya disease 2 (MYMY2) [MIM:607151]: 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. {ECO:0000269|PubMed:21048783, ECO:0000269|PubMed:21799892}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Similarity:
Contains 1 RING-type zinc finger.
SWISS:
Q9HCF4
Gene ID:
57714
Database links:
Entrez Gene: 57714 Human
SwissProt: Q9HCF4 Human
Unigene: 514554 Human
|
|
