The ITPKC gene provides instructions for making one version (isoform) of the inositol 1,4,5-trisphosphate 3-kinase (ITPK) enzyme. This enzyme helps add a cluster of oxygen and phosphorus atoms (a phosphate group) to a molecule called Ins(1,4,5)P3 to produce a molecule called Ins(1,3,4,5)P4. Both of these molecules are involved in regulating the amount of calcium in cells.
Several versions (isoforms) of the ITPK enzyme are produced from different genes. They play a variety of roles in processes throughout the body. The isoform produced from the ITPKC gene is called inositol 1,4,5-trisphosphate 3-kinase C (ITPKC). It is involved in a mechanism called the Ca(2+)/NFAT signaling pathway, which is affected by calcium levels. This pathway helps limit the activity of immune system cells called T cells. T cells identify foreign substances and defend the body against infection. Reducing the activity of T cells when appropriate prevents the overproduction of immune proteins called cytokines that lead to inflammation and which, in excess, cause tissue damage.
Health Conditions Related to Genetic Changes
A variation in the ITPKC gene has been associated with an increased risk of Kawasaki disease, a sudden and time-limited (acute) illness affecting infants and children resulting in prolonged fever, inflammation, and other signs and symptoms. The variation changes a single DNA building block (nucleotide) in a region of the gene known as intron 1. It appears to reduce the efficiency of ITPKC gene transcription, which is the first step in producing the ITPKC enzyme. Researchers suggest that the variation may reduce the amount of ITPKC enzyme and interfere with the body's ability to limit T cell activity, leading to inflammation that damages blood vessels and results in the signs and symptoms of Kawasaki disease.More About This Health Condition
Other Names for This Gene
- inositol 1,4,5-trisphosphate 3-kinase C
- InsP 3 kinase C
- insP 3-kinase C
- IP3 3-kinase C
- IP3K C
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
- Burns JC. Kawasaki Disease update. Indian J Pediatr. 2009 Jan;76(1):71-6. doi: 10.1007/s12098-009-0031-3. Epub 2009 Apr 18. Citation on PubMed
- Hata A, Onouchi Y. Susceptibility genes for Kawasaki disease: toward implementation of personalized medicine. J Hum Genet. 2009 Feb;54(2):67-73. doi: 10.1038/jhg.2008.9. Epub 2009 Jan 16. Citation on PubMed
- Kuo HC, Yang KD, Juo SH, Liang CD, Chen WC, Wang YS, Lee CH, Hsi E, Yu HR, Woon PY, Lin IC, Huang CF, Hwang DY, Lee CP, Lin LY, Chang WP, Chang WC. ITPKC single nucleotide polymorphism associated with the Kawasaki disease in a Taiwanese population. PLoS One. 2011 Apr 14;6(4):e17370. doi: 10.1371/journal.pone.0017370. Citation on PubMed or Free article on PubMed Central
- Lin MT, Wang JK, Yeh JI, Sun LC, Chen PL, Wu JF, Chang CC, Lee WL, Shen CT, Wang NK, Wu CS, Yeh SZ, Chen CA, Chiu SN, Wu MH. Clinical Implication of the C Allele of the ITPKC Gene SNP rs28493229 in Kawasaki Disease: Association With Disease Susceptibility and BCG Scar Reactivation. Pediatr Infect Dis J. 2011 Feb;30(2):148-52. doi: 10.1097/INF.0b013e3181f43a4e. Citation on PubMed
- Onouchi Y, Gunji T, Burns JC, Shimizu C, Newburger JW, Yashiro M, Nakamura Y, Yanagawa H, Wakui K, Fukushima Y, Kishi F, Hamamoto K, Terai M, Sato Y, Ouchi K, Saji T, Nariai A, Kaburagi Y, Yoshikawa T, Suzuki K, Tanaka T, Nagai T, Cho H, Fujino A, Sekine A, Nakamichi R, Tsunoda T, Kawasaki T, Nakamura Y, Hata A. ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms. Nat Genet. 2008 Jan;40(1):35-42. doi: 10.1038/ng.2007.59. Epub 2007 Dec 16. Citation on PubMed or Free article on PubMed Central
- Onouchi Y. Molecular genetics of Kawasaki disease. Pediatr Res. 2009 May;65(5 Pt 2):46R-54R. doi: 10.1203/PDR.0b013e31819dba60. Citation on PubMed
- Yeung RS. Kawasaki disease: update on pathogenesis. Curr Opin Rheumatol. 2010 Sep;22(5):551-60. doi: 10.1097/BOR.0b013e32833cf051. Citation on PubMed
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