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.
Other Names
inositol 1,4,5-trisphosphate 3-kinase C; InsP 3 kinase C; insP 3-kinase C; IP3 3-kinase C; IP3-3KC; IP3K C; IP3KC; IP3KC_HUMAN
Related Genetics Topics
Identifiers
- NCBI Gene: 80271
- OMIM: 606476
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
