ITPKC Chromosome 19
Inositol-trisphosphate 3-kinase C
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What This Gene Does
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]
Associated Conditions (2)
Reclassified - variant of unknown significance
ITPKC-related disorder
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS28493229 | Health Risk | Conflicting classifications of pathogenicity | Reclassified - variant of unknown significance, ITPKC-related disorder, Reclassified - variant of unknown significance |