DISEASES

Disease-gene associations mined from literature

Literature associating IPPK and early infantile epileptic encephalopathy 9

IPPK [ENSP00000287996]

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 ...

Linkouts:  STRING  Pharos  UniProt