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ITPK1 encodes an enzyme that belongs to the inositol 1,3,4-trisphosphate 5/6-kinase family. This enzyme regulates the synthesis of inositol tetraphosphate, and downstream products, inositol pentakisphosphate and inositol hexakisphosphate. Inositol metabolism plays a role in the development of the neural tube. Disruptions in this gene are thought to be associated with neural tube defects. A pseudogene of this gene has been identified on chromosome X.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Inositol 1,3,4-trisphosphate 5/6-kinase; Inositol-tetrakisphosphate 1-kinase; Inositol-triphosphate 5/6-kinase; ins(1,3,4)P(3) 5/6-kinase
Gene Aliases: ITPK1; ITRPK1
UniProt ID: (Human) Q13572
Entrez Gene ID: (Human) 3705
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