DISEASES

Disease-gene associations mined from literature

Literature associating PPIP5K2 and proprotein convertase 1/3 deficiency

PPIP5K2 [ENSP00000482907]

Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2; Bifunctional inositol kinase that acts in concert with the IP6K kinases IP6K1, IP6K2 and IP6K3 to synthesize the diphosphate group-containing inositol pyrophosphates diphosphoinositol pentakisphosphate, PP-InsP5, and bis- diphosphoinositol tetrakisphosphate, (PP)2-InsP4. PP-InsP5 and (PP)2-InsP4, also respectively called InsP7 and InsP8, regulate a variety of cellular processes, including apoptosis, vesicle trafficking, cytoskeletal dynamics, exocytosis, insulin signaling and neutrophil activation. Phosphorylates inositol hexakisphosphate (InsP6) at positions 1 or 3 to produce PP-InsP5 which is in turn phosphorylated by IP6Ks to produce (PP)2-InsP4. Alternatively, phosphorylates at position 1 or 3 PP-InsP5, produced by IP6Ks from InsP6, to produce (PP)2-InsP4; Cilia and flagella associated

Synonyms:  PPIP5K2,  PPIP5K2p,  hPPIP5K2,  D6RBU4,  D6RFG4 ...

Linkouts:  STRING  Pharos  UniProt