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].
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Onouchi, Gunji, Burns, Shimizu, Newburger, Yashiro, Nakamura, Yanagawa, Wakui, Fukushima, Kishi, Hamamoto, Terai, Sato, Ouchi, Saji, Nariai, Kaburagi, Yoshikawa, Suzuki, Tanaka, Nagai, Cho, Fujino et al.: "ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms. ..." dans: Nature genetics, Vol. 40, Issue 1, pp. 35-42, (2007) (PubMed).
Synonymes et noms alternatifs relatifs à ITPKC
inositol-trisphosphate 3-kinase C (ITPKC), inositol-trisphosphate 3-kinase C L homeolog (itpkc.L), inositol-trisphosphate 3-kinase Ca (itpkca), inositol-trisphosphate 3-kinase C (itpkc), inositol 1,4,5-trisphosphate 3-kinase C (LOC100354575), inositol 1,4,5-trisphosphate 3-kinase C (Itpkc), inositol-trisphosphate 3-kinase C (Itpkc), 9130023N17Rik, fi30c01, IP3-3KC, IP3KC, itpkc, wu:fi30c01