Genomics, genetic basis of disease and functional genomics Methods: Two SNPs of the ITPKC gene (rs28493229 and rs2290692) were studied in 50 cases

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,

Disease related genes Enzymes Potential drug targets: Predicted location i Intracellular: Number of transcripts i. 1: HUMAN PROTEIN ATLAS INFORMATION i. RNA tissue 2010-01-02 2007-12-16 Gene-gene interactions have been linked to a number of important diseases, such as diabetes and essential hypertension. 30, 31 In KD, interactions between ITPKC and the caspase-3 gene have been studied with respect to an association between unresponsiveness of IVIG and development of coronary artery complications. 32, 33 The potential role of interactions between ITPKC and SLC11A1 was 2011-10-11 2012-05-18 ITPKC gene product.

Summaries for ITPKB gene (According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL) About This Sectio RNA in situ RNAscope or Basescope probes for ITPKC in the catalog for Mouse Summary of ITPKC expression in human tissue. Ubiquitous cytoplasmic and nuclear expression. Gene-gene interactions between ITPKC and SLC11A1 in KD and BCG injection site erythema were also analyzed. Results: Three tagging SNPs in ITPKC and five tagging SNPs in SLC11A1 were genotyped in 299 KD patients and 210 control children. SNP rs28493229 in ITPKC was associated with KD and coronary artery complications. Genetic testing - Kawasaki disease (Kawasaki disease) - Gen ITPKC.

reaction in KD. We also reported that genes involved in Previous genetic polymorphism studies in trisphosphate 3-kinase C (ITPKC) gene, a gene upstream.

No data available. Embryo viewer. N/A Other links. MGI Ensembl .

The ITPKC gene SNP rs28493229 was determined using TaqMan Allelic Discrimination Assay (Applied Biosystems, Foster City, CA, USA). Polymerase chain reaction (PCR) was carried out by using a 96-well GeneAmp PCR System 9700 (Applied Biosystems) with solutions consisting of 10 ng of genomic DNA, 5 µl of TaqMan Universal PCR Master Mix, 0.5 µl of 20 × Assay Mix and double-distilled H 2 O up to a final volume of 10 µl.

ITPK isoforms include ITPKA, ITPKB, and ITPKC, all of which contain a conserved catalytic unit in their C termini, but have unique N-terminal sequences and tissue distributions. We aim to study if polymorphisms in the ITPKC gene are associated with the risk of cervical cancer in Taiwanese women. ITPKC rs28493229 C/G, rs890934 G/T, rs2303723 C/T, and rs10420685 A/G polymorphisms were genotyped in a hospital-based study of 465 women with cervical squamous cell carcinoma (CSCC) and 800 age-matched healthy control women.

The C allele of the ITPKC gene rs2290692 is linked to a significantly higher risk for KD in the Han Chinese population studied. ITPKC susceptibility in Kawasaki syndrome is related to its synergy with environmental triggers, such as thimerosal, which alter calcium homeostasis and promote oxidative stress. 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. The encoded protein is localized to the nucleus and cytoplasm and has both nuclear import and nuclear export activity.
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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.

The ITPKC gene SNP rs28493229 was determined using TaqMan Allelic Discrimination Assay (Applied Biosystems, Foster City, CA, USA).
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Sequence variants and/or copy number variants (deletions/duplications) within the ITPKC gene will be detected with >99% sensitivity. Variants classified as unknown significance (VUS), likely pathogenic, or pathogenic will be reported. Benign and likely benign variants are generally not reported.

[1] Kawasaki disease is an acute febrile illness that involves the inflammation of blood vessels throughout the body. 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.