Description: Homo sapiens inositol-trisphosphate 3-kinase C (ITPKC), mRNA. (from RefSeq NM_025194) RefSeq Summary (NM_025194): This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphate.

We previously identified 2 susceptibility genes for KD, inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) on 19q13.2 and caspase-3 (CASP3) on 4q34-35 through a genome-wide sib-pair study, followed

If you continue, we'll assume that you are happy to receive all cookies. 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. It is the leading cause of acquired heart disease in children due to the frequent occurrence of coronary artery lesions (CALs). Recently, a C allele of rs28493229 (G/C) in inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) gene was found to significantly increase the risk for KD/CALs in Japanese population. ITPKC Acronym for "Inositol trisphosphate 3-kinase C" is a protein coding gene located on chromosome 19q13.2.

Itpkc gene

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. ITPKC is one of 3 human genes that encode for an Inositol-trisphosphate 3-kinase. This gene that has been associated with Kawasaki disease. Kawasaki disease is an acute febrile illness that involves the inflammation of blood vessels throughout the body.

Human Gene ITPKC (ENST00000263370.3) Description and Page Index Description: Homo sapiens inositol-trisphosphate 3-kinase C (ITPKC), mRNA. (from RefSeq NM_025194)

SNP rs28493229 in ITPKC was associated with KD and coronary artery complications. Term: Qualifier: Evidence: With: Reference: Notes: Source: Original Reference(s) (+)-schisandrin B : multiple interactions: EXP: 6480464: schizandrin B inhibits the ITPKC is one of 3 human genes that encode for an Inositol-trisphosphate 3-kinase. This gene that has been associated with Kawasaki disease .

itpkc inositol-trisphosphate 3-kinase C This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphate.

It is likely due to multiple interactions between genes 3 Mar 2014 Study of the Association between ITPKC Genetic. Polymorphisms and Calcium Nephrolithiasis. Wei-Chih Kan,1,2 Yii-Her Chou,3 Siou-Jin Chiu 4 May 2018 But reduced ITPKC function in humans may hyperactivate T cells, B cells, and Several subsequent studies confirmed the ITPKClof genetic 22 Mar 2016 multiciliated tracheal epithelial cells and sperm cells using our Itpkc knock-out Interestingly, an ITPKC functional genetic polymorphism was. review revealed numerous potential susceptibility genes including genetic polymorphisms of ITPKC,.

These mutations are displayed at the amino acid level across the full length of the gene by default. Restrict the view to a region of the gene by dragging across the histogram to highlight the region of interest, or by using the sliders in the filters panel to the left. Gene. ITPKC. Organism.
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The ITPKC gene provides instructions for making an enzyme called inositol 1,4,5-trisphosphate 3-kinase C. This enzyme helps limit the activity of immune system cells called T cells . T cells identify foreign substances and defend the body against infection. The C allele of the functional single-nucleotide polymorphism (SNP) rs28493229 in the ITPKC gene located on chromosome 19q13.2 is associated with susceptibility to KD and CALs in both Japanese and US children (21). The aim of our study was to determine whether this SNP is associated with susceptibility to KD or CALs in Taiwanese children.

Diseases associated with ITPKC include Kawasaki Disease and Coronary Aneurysm . Among its related pathways are superpathway of inositol phosphate compounds and Metabolism . HGNC:14897, ITPKC: MIM i: 606476, gene: neXtProt i: NX_Q96DU7: VEuPathDB i: HostDB:ENSG00000086544.2 We investigated the association between KD and single nucleotide polymorphisms (SNPs) in two candidate genes: inositol 1,4,5-triphosphate 3-kinase (ITPKC), a well-studied KD-associated gene, and solute carrier 11a1 (SLC11A1), which is associated with the hypersensitive reaction to the BCG strain in Koreans. ITPKC, human: GenomeRNAi i: 80271: Gene expression databases.
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Genetic polymorphisms of the ITPKC signaling pathway in Kawasaki disease. A major advancement in the genetic study of KD was made by the discovery of

Human Gene ITPKC (ENST00000263370.3) Description and Page Index Description: Homo sapiens inositol-trisphosphate 3-kinase C (ITPKC), mRNA. (from RefSeq NM_025194) Panel Description This is a next generation sequencing (NGS) test appropriate for individuals with clinical signs and symptoms, suspicion of, or family history of Kawasaki Disease. Sequence variants and/or copy number variants (deletions/duplications) within the ITPKC gene will be detected with >99% sensitivity.