Itpkc gene

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

EC 2.7.1.127; Inositol 1,4,5-trisphosphates 3-kinase C; Inositol trisphosphates 3-kinase C; InsP 3-kinase C; InsP 3 Kinase C; IP3-3KC; IP3 3-Kinase C; IP3KC; IP3K C; ITPKC; ITPKC gene

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DefinitionThis section has been translated automatically.

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.

LiteratureThis section has been translated automatically.

  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.

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer