Gene Symbol | ITPKC |
Entrez Gene ID | 80271 |
Full Name | inositol-trisphosphate 3-kinase C |
Synonyms | IP3-3KC,IP3KC |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. Single nucleotide polymorphisms in this gene are associated with Kawasaki disease.[provided by RefSeq, Sep 2009]. |
Disorder MIM: | |
Disorder Html: | {Kawasaki disease, susceptibility to}, 611775 (3) |