Literature associating IPPK and early infantile epileptic encephalopathy 9
Inositol 1,3,4,5,6-pentakisphosphate 2-kinase; 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; Belongs to the IPK1 type 2 family.
Synonyms: IPPK, Q9H8X2, X6R9A6, C9orf12, Q9H8X2p ...