Itpkc gene

ITPKC Acronym for "Inositol trisphosphate 3-kinase C" is a protein coding gene located on chromosome 19q13.2. The ITPKC gene encodes as one of three isoenzymes (ITPKA and ITPKB) for a member of the inositol 1,4,5-trisphosphate 3-kinase family. These enzymes modulate inositol phosphate metabolism and catalyze the phosphorylation of inositol 1,4,5-trisphosphate to inositol 1,3,4,5-tetrakisphosphate. The encoded protein is localized in the nucleus and cytoplasm and has both nuclear import and export activity. T-cell activity is regulated by this calcium ion-dependent signaling pathway.

Single nucleotide polymorphisms in this gene are associated with Kawasaki disease(Onouchi Y 2018). Biochemical processes involving this gene involve calmodulin binding and inositol 1,4,5-trisphosphate 3-kinase activity.

1. Onouchi Y et al (2008) ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms. Nat Genet 40:35-42.
2. Onouchi Y (2018) The genetics of Kawasaki disease. Int J Rheum Dis 21:26-30.