| 简介 | The protein encoded by this gene is a kinase that phosphorylates position 2 of inositol-1,3,4,5,6-pentakisphosphate to form inositol-1,2,3,4,5,6-hexakisphosphate (InsP6). InsP6 has a variety of functions, including stimulation of DNA repair, endocytosis, and mRNA export. [provided by RefSeq, Nov 2010]
Diseases associated with IPPK include Limb-Girdle Muscular Dystrophy and Carnitine-Acylcarnitine Translocase Deficiency. Among its related pathways are Inositol phosphate metabolism and superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism. Gene Ontology (GO) annotations related to this gene include inositol-1,3,4,5,6-pentakisphosphate 2-kinase activity.
Phosphorylates Ins(1,3,4,5,6)P5 at position 2 to form Ins(1,2,3,4,5,6)P6 (InsP6 or phytate).
InsP6 is involved in many processes such as mRNA export, non-homologous end-joining, endocytosis, ion channel regulation.
It also protects cells from TNF-alpha-induced apoptosis.
Cytoplasm {ECO:0000250}5
Nucleus {ECO:0000250}5 |
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