ITPKC is one of 3 human genes that encode for an

Inositol-trisphosphate 3-kinase Inositol (1,4,5) trisphosphate 3-kinase (), abbreviated here as ITP3K, is an enzyme that facilitates a phospho-group transfer from adenosine triphosphate to 1D-myo-inositol 1,4,5-trisphosphate. This enzyme belongs to the family of transferases, s ...

. This gene that has been associated with

Kawasaki disease Kawasaki disease is a syndrome of unknown cause that results in a fever and mainly affects children under 5 years of age. It is a form of vasculitis, where blood vessels become inflamed throughout the body. The fever typically lasts for more tha ...

. Kawasaki disease is an acute febrile illness that involves the inflammation of blood vessels throughout the body. The majority of cases that have been diagnosed involve children under the age of 5. In untreated cases involving children, 15 to 25 percent of these cases developed coronary artery aneurysms. The overproduction of T cells may be correlated with the immune hyperactivity in Kawasaki disease. This gene is located at chromosome 19q13.1, it codes for one of three isoenzymes. The other two enzymes being

ITPKA Inositol-trisphosphate 3-kinase A is an enzyme that in humans is encoded by the ''ITPKA'' gene. Structure ITPKA is one of three inositol-trisphosphate 3-kinase (ITP3K) genes in humans. ITP3K proteins regulate inositol phosphate metabolism by p ...

and

ITPKB Inositol-trisphosphate 3-kinase B is an enzyme that in humans is encoded by the ''ITPKB'' gene. Function The protein encoded by the ITPKB gene is one of 3 isoforms of Inositol-trisphosphate 3-kinase expressed in humans. ITPKB protein regulates ...

. ITPKC is involved in the Ca(2+)/NFAT pathway, negatively regulating T cell activation. A mutation in this gene occurs through a single-nucleotide polymorphism. When a mutation occurs the gene does not produce a functioning enzyme, meaning it will no longer be effective in negatively regulating T cells. When there is this reduced expression of the enzyme, ITPKC, there is a higher amount of IP3 which leads to the calcium channels being opened, and a higher amount of calcium being released. Leading to overly active T cells, and having this mutation in ITPKC is correlated to the increased risk of developing symptoms.

References

{{gene-19-stub

See also

References