ITPKC Antibody – Goat Polyclonal

This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphate. The encoded protein is localized to the nucleus and cytoplasm and has both nuclear import and nuclear export activity. Single nucleotide polymorphisms in this gene are associated with Kawasaki disease.[provided by RefSeq, Sep 2009]

ITPKC: Can phosphorylate inositol 2,4,5-triphosphate to inositol 2,4,5,6-tetraphosphate. Defects in ITPKC are a cause of Kawasaki disease (KWD); also known as mucocutaneous lymph node syndrome or infantile polyarteritis. Kawasaki disease is an acute, self- limited vasculitis of infants and children characterized by prolonged fever unresponsive to antibiotics, polymorphous skin rash, erythema of the oral mucosa, lips, and tongue, erythema of the palms and soles, bilateral conjunctival injection, and cervical lymphadenopathy. Coronary artery aneurysms develop in 15 to 25% of those left untreated, making Kawasaki disease the leading cause of acquired heart disease among children in developed countries. Belongs to the inositol phosphokinase (IPK) family.

Protein type: EC 2.7.1.127; Kinase, lipid; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 19q13.1

Cellular Component: cytosol; nucleoplasm

Molecular Function: ATP binding; calmodulin binding; inositol trisphosphate 3-kinase activity

Biological Process: inositol phosphate metabolic process; phosphorylation; positive regulation of defense response to virus by host

Disease: Kawasaki Disease