ITPKC Antibody

1. This study identified several important polymorphisms in the ITPKC and SLC11A1 genes in Koreans. PMID: 29214786
2. Genetic variants of ITPKC may have a potential association with HSCR (Hirschsprung disease) susceptibility and/or developmental diseases related to enteric nervous system development. PMID: 28664405
3. this study shows that the KD-associated genetic polymorphism in inositol-triphosphate 3-kinase C (ITPKC) (rs28493229) has important functional consequences, governing ITPKC protein levels and thereby intracellular calcium, which in turn regulates NLRP3 expression and production of IL-1beta and IL-18. PMID: 27694492
4. ITPKC polymorphisms are associated with Kawasaki disease. PMID: 24903211
5. SNP rs7251246 in ITPKC is associated with the severity of Kawasaki disease PMID: 24621571
6. Our results identify a novel polymorphism for renal function and highlight the importance of ITPKC as a key molecule to regulate calcium signaling. PMID: 24800221
7. a combinatorial association between ITPKC (rs28493229) and CASP3 (rs113420705) was found in coronary artery lesion formation (P = 0.0227, OR: 3.06)in Taiwanese population PMID: 23894522
8. functional studies demonstrated that PPP3CC positively influences the protein level of ITPKC, likely by inhibiting phosphorylation of ITPKC and consequently preventing ITPKC from ubiquitin-mediated protein degradation PMID: 23747857
9. Functional single-nucleotide polymorphisms in ITPKC and CASP3 are associated with susceptibility to Kawasaki's disease (KD). PMID: 21987091
10. the functional polymorphism rs28493229 in ITPKC significantly contributes to the risk of Kawasaki disease. PMID: 23065250
11. The C allele of the ITPKC gene rs2290692 is linked to a significantly higher risk for KD in the Han Chinese population studied. PMID: 22361738
12. ITPKC susceptibility in Kawasaki syndrome is related to its synergy with environmental triggers, such as thimerosal, which alter calcium homeostasis and promote oxidative stress. PMID: 22498790
13. It was found the G/G genotype and G allele of the inositol 1,4,5-trisphosphate 3-kinase rs28493229 polymorphism may contribute to the risk of cervical squamous cell carcinoma in Taiwanese women. PMID: 22610085
14. The study failed to prove any association between SNP rs28493229 of ITPKC gene and Kawasaki disease/coronary artery lesions in Chinese patients. PMID: 22161096
15. results indicated that C-allele of ITPKC SNP rs28493229 is associated with the susceptibility and aneurysm formation in KD patients in a Taiwanese population PMID: 21533171
16. Single nucleotide polymorphism rs28493229 in ITPKC contributes to Kawasaki disease susceptibility through induced hyperimmune function reflected in the BCG reactivation. PMID: 20805785
17. A statistically significant association was not found between the ITPKC gene single-nucleotide polymorphism rs28493229 and Kawasaki disease or coronary artery lesions in Taiwanese children. PMID: 20045869
18. results highlight the potential role of the three isoforms of InsP3 3-kinase as direct InsP3 metabolizing enzymes and direct regulators of Ca2+ responses to extracellular signals PMID: 12747803
19. ITPKC acts as a negative regulator of T-cell activation through the Ca2+/NFAT signaling pathway, and the C allele may contribute to immune hyper-reactivity in Kawasaki disease. PMID: 18084290

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HGNC: 14897

OMIM: 606476

KEGG: hsa:80271

STRING: 9606.ENSP00000263370

UniGene: Hs.515415