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ITPKC gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

ITPKC gene

The ITPKC gene provides instructions for an enzyme that regulates calcium levels in cells, playing a critical role in controlling immune system activity.

Normal Function

The ITPKC gene provides instructions for making one version (isoform) of the inositol 1,4,5-trisphosphate 3-kinase (ITPK) enzyme. This enzyme helps produce a molecule called Ins(1,3,4,5)P4 from Ins(1,4,5)P3. Both molecules are involved in regulating the amount of calcium in cells.

The isoform produced by this gene, ITPKC, is involved in the Ca(2+)/NFAT signaling pathway. This pathway helps limit the activity of T cells, which are immune system cells that defend the body against infection. By reducing T cell activity when appropriate, the enzyme prevents the overproduction of cytokines, which can lead to inflammation and tissue damage if produced in excess.

Health Conditions Related to Genetic Changes

Kawasaki disease

A variation in the ITPKC gene has been associated with an increased risk of Kawasaki disease, an acute illness in infants and children characterized by prolonged fever, inflammation, and other symptoms. The variation occurs in a region of the gene known as intron 1 and appears to reduce the efficiency of ITPKC gene transcription.

Researchers suggest that this variation may reduce the amount of ITPKC enzyme produced, interfering with the body's ability to limit T cell activity. This leads to inflammation that can damage blood vessels, resulting in the signs and symptoms of Kawasaki disease.

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
  • IP3-3KC
  • IP3K C
  • IP3KC
  • IP3KC_HUMAN

Frequently Asked Questions

simple blood or saliva sample can be sent to a laboratory for targeted DNA sequencing or a specific single‑nucleotide polymorphism (SNP) assay that detects the intron‑1 variant. Results are usually available within a few weeks and can be used to assess risk in infants or children with unexplained fevers.
While no definitive preventive measure exists, families can ensure timely vaccination, maintain good hygiene to reduce infection exposure, and educate caregivers to seek prompt medical attention for prolonged fevers. In research settings, some trials are exploring targeted therapies that modulate calcium signaling pathways, but these are not yet standard care.
Yes. If a child carries the risk variant, clinicians may monitor for early signs of coronary artery involvement more closely and consider earlier initiation of high‑dose intravenous immunoglobulin (IVIG) or adjunctive therapies. Some centers use ITPKC status to guide the intensity of follow‑up imaging and cardiac monitoring.
The intron‑1 variant reduces the efficiency of ITPKC transcription, leading to lower levels of the ITPKC enzyme. This enzyme normally limits calcium signaling in T cells, preventing excessive activation. With reduced ITPKC, T cells become overactive, producing higher levels of inflammatory cytokines that damage blood vessels, a hallmark of Kawasaki disease.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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