ITPKB Chromosome 1
Inositol-trisphosphate 3-kinase B
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What This Gene Does
The protein encoded by this protein regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of this encoded protein is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. [provided by RefSeq, Jul 2008]
Associated Conditions (2)
Myeloproliferative neoplasm
unclassifiable
Key Variants
RS147889095
Conflicting classifications of pathogenicity
Myeloproliferative neoplasm, unclassifiable, Myeloproliferative neoplasm
Health Risk
RS3754413
Conflicting classifications of pathogenicity
Myeloproliferative neoplasm, unclassifiable, Myeloproliferative neoplasm
Health Risk
RS3754415
Conflicting classifications of pathogenicity
Myeloproliferative neoplasm, unclassifiable, Myeloproliferative neoplasm
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147889095 | Health Risk | Conflicting classifications of pathogenicity | Myeloproliferative neoplasm, unclassifiable, Myeloproliferative neoplasm |
| RS3754413 | Health Risk | Conflicting classifications of pathogenicity | Myeloproliferative neoplasm, unclassifiable, Myeloproliferative neoplasm |
| RS3754415 | Health Risk | Conflicting classifications of pathogenicity | Myeloproliferative neoplasm, unclassifiable, Myeloproliferative neoplasm |