ITPKC

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 C
Identifiers
SymbolITPKC
NCBI gene80271
HGNC14897
OMIM606476
RefSeqNM_025194
Other data
LocusChr. 19 q13.1

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]

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]

See also
  • ITPR1
  • Inositol triphosphate

References
  1. Onouchi Y, Gunji T, Burns JC, et al. (January 2008). "ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms". Nat. Genet. 40 (1): 35–42. doi:10.1038/ng.2007.59. PMC 2876982. PMID 18084290.
  2. Kim, Dong Soo (31 December 2006). "Kawasaki Disease". Yonsei Medical Journal. 47 (6): 759–772. doi:10.3349/ymj.2006.47.6.759. ISSN 0513-5796. PMC 2687814. PMID 17191303.
  3. Reference, Genetics Home. "ITPKC gene". Genetics Home Reference. Retrieved 5 November 2016.
  4. Yeter, Deniz; Deth, Richard (1 October 2012). "ITPKC susceptibility in Kawasaki syndrome as a sensitizing factor for autoimmunity and coronary arterial wall relaxation induced by thimerosal's effects on calcium signaling via IP3". Autoimmunity Reviews. 11 (12): 903–908. doi:10.1016/j.autrev.2012.03.006. PMID 22498790.
  5. Yoon, Kyung Lim (5 November 2016). "Update of genetic susceptibility in patients with Kawasaki disease". Korean Journal of Pediatrics. 58 (3): 84–88. doi:10.3345/kjp.2015.58.3.84. ISSN 1738-1061. PMC 4388975. PMID 25861330.


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.