| inositol 1,4,5-trisphosphate 3-kinase C | |
|---|---|
| Identifiers | |
| Symbol | ITPKC |
| Entrez | 80271 |
| HUGO | 14897 |
| OMIM | 606476 |
| RefSeq | NM_025194 |
| Other data | |
| Locus | Chr. 19 q13.1 |
ITPKC is one of 3 human genes that encode for an Inositol-trisphosphate 3-kinase. This gene that has been associated with Kawasaki disease. [1] 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. [2] The overproduction of T cells may be correlated with the immune hyperactivity in Kawasaki disease.
Inositol (1,4,5) trisphosphate 3-kinase (EC 2.7.1.127), 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, specifically those transferring phosphorus-containing groups (phosphotransferases) with an alcohol group as acceptor. The systematic name of this enzyme class is ATP:1D-myo-inositol-1,4,5-trisphosphate 3-phosphotransferase. ITP3K catalyzes the transfer of the gamma-phosphate from ATP to the 3-position of inositol 1,4,5-trisphosphate to form inositol 1,3,4,5-tetrakisphosphate. ITP3K is highly specific for the 1,4,5-isomer of IP3, and it exclusively phosphorylates the 3-OH position, producing Ins(1,3,4,5)P4, also known as inositol tetrakisphosphate or IP4.
Kawasaki disease, also known as mucocutaneous lymph node syndrome, is a disease in which blood vessels throughout the body become inflamed. The most common symptoms include a fever that lasts for more than five days not affected by usual medications, large lymph nodes in the neck, a rash in the genital area, and red eyes, lips, palms or soles of the feet. Other symptoms include sore throat and diarrhea. Within three weeks of the onset of symptoms, the skin from the hands and feet may peel. Recovery then typically occurs. In some children, coronary artery aneurysms may form in the heart after 1–2 years.
This gene is located at chromosome 19q13.1, it codes for one of three isoenzymes. The other two enzymes being ITPKA and ITPKB. ITPKC is involved in the Ca(2+)/NFAT pathway, negatively regulating T cell activation. [3]
Inositol-trisphosphate 3-kinase A is an enzyme that in humans is encoded by the ITPKA gene.
Inositol-trisphosphate 3-kinase B is an enzyme that in humans is encoded by the ITPKB gene.
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. [4] Leading to overly active T cells, and having this mutation in ITPKC is correlated to the increased risk of developing symptoms. [5]
