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.

Summary; mRNA and Protein(s); References; Additional Links 7 Feb 2017 IP3 is phosphorylated to become IP4 by inositol 1,4,5-triphosphate 3-kinase C ( ITPKC) and negatively regulates T-cell receptor signal In recent years, multiple genetic candidate pathways involved in KD have been identified, with inositol-triphosphate 3-kinase (ITPKC) gene. ITPKC expres-. Our results indicated that ITPKC gene expression was significantly associated with BMD. Furthermore, we found that one ITPKC SNP (rs2607420) was 29 Nov 2017 Gene-gene interactions between ITPKC and SLC11A1 in KD and BCG injection site erythema were also analyzed. Results.

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 320404 Ensembl ENSG00000143772 ENSMUSG00000038855 UniProt P27987 B2RXC2 RefSeq (mRNA) NM_002221 NM_001388404 NM_001081175 RefSeq (protein) NP_002212 NP_001074644 Location (UCSC) Chr 1: 226.63 – 226.74 Mb Chr 1: 180.33 – 180.42 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Inositol-trisphosphate 3-kinase B is an enzyme that in humans is encoded by the ITPKB gene. Function The 2021-02-20 · Known as: IP3KC, ITPKC, IP3-3KC Expand This gene plays a role in both second messenger metabolism and calcium homeostasis. National Institutes of Health Create Alert The gene ITPKC may have Genomic and Proteomic products available from Sigma-Aldrich. The Parkinson’s disease-associated gene ITPKB protects against α-synuclein aggregation by regulating ER-to-mitochondria calcium release Daniel J. Apiccoa,b,1 , Evgeny Shlevkova, Catherine L. Nezicha , David T. Trana , Edward Guilmettec, 2019-12-07 · [PMID 18084290] ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms. [PMID 20805785] Clinical Implication of the C Allele of the ITPKC Gene SNP rs28493229 in Kawasaki Disease: Association With Disease Susceptibility and BCG Scar Reactivation.

Inositol 1,4,5-trisphosphate 3-kinase (ITPK) catalyzes the phosphorylation of Ins (1,4,5)P3 to Ins (1,3,4,5)P4, both of which are modulators of calcium homeostasis.

30 Nov 2018 As such, ITPKC, an upstream regulator of SOC entry, is a potential candidate gene for osteoclastogenesis as well. However, the genetic

The PZ-2891 compound temporarily locks ALK · BCL-2 · CD79b · HER Pathways · MAPK · MDM2 · NTRK Gene Fusions · PI3K/AKT Pathway · Explore ROS1 · VEGF · The Hallmarks of Cancer. 16 May 2020 It is believed that an infectious trigger in those with a genetic predisposition Genetics: The ITPKC gene may play a role in Kawasaki disease, 20 Nov 2019 In another study conducted by Kuo et al, they noticed that high-risk genotype patients with combined acquisition of ITPKC gene (rs28493229) 4 Nov 2018 genome-wide association studies (GWASs) have been conducted ITPKC gene SNP rs28493229 and Kawasaki disease in Taiwanese.

Gene: Itpkc Log in to follow. Name. inositol 1,4,5-trisphosphate 3-kinase C. MGI ID. MGI:2442554. Synonyms. 9130023N17Rik. Viability. No data available. Embryo viewer. N/A Other links. MGI Ensembl . Significant phenotypes (0) Measurements chart (0) All data table (0) Expression & images

ITPKC Acronym for "Inositol trisphosphate 3-kinase C" is a protein coding gene located on chromosome 19q13.2. The ITPKC gene encodes as one of three isoenzymes (ITPKA and ITPKB) for a member of the inositol 1,4,5-trisphosphate 3-kinase family.

Inositol 1,4,5-trisphosphate (IP3) 3-kinase C (ITPKC) is a negative regulator of the SOC channel-mediated signaling pathway. We investigated the association between calcium containing nephrolithiasis and genetic variants of ITPKC gene in Taiwanese patients. 365 patients were recruited in this study. ITPKC.
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50: Annotation score: Gene expression databases. Bgee i: ENSG00000086544, Expressed in lower esophagus mucosa and 209 other tissues: ExpressionAtlas i: 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. ITPKC (Inositol-Trisphosphate 3-Kinase C) is a Protein Coding gene. Diseases associated with ITPKC include Kawasaki Disease and Coronary Aneurysm.

The ITPKC gene encodes as one of three isoenzymes (ITPKA and ITPKB) for a member of the inositol 1,4,5-trisphosphate 3-kinase family.
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2021-02-20 · Known as: IP3KC, ITPKC, IP3-3KC Expand This gene plays a role in both second messenger metabolism and calcium homeostasis. National Institutes of Health Create Alert

Find diseases associated with this biological target and compounds tested against it in bioassay experiments. Summary of ITPKC (IP3-3KC, IP3KC) expression in human tissue. General cytoplasmic and nuclear expression. Description: Homo sapiens inositol-trisphosphate 3-kinase C (ITPKC), mRNA.