DISEASES

Disease-gene associations mined from literature

Literature on PIKFYVE

PIKFYVE [ENSP00000264380]

1-phosphatidylinositol 3-phosphate 5-kinase; The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Catalyzes the phosphorylation of phosphatidylinositol 3-phosphate on the fifth hydroxyl of the myo-inositol ring, to form phosphatidylinositol 3,5-bisphosphate. Required for endocytic-vacuolar pathway and nuclear migration. Plays a role in the biogenesis of endosome carrier vesicles (ECV)/ multivesicular bodies (MVB) transport intermediates from early endosomes.

Synonyms:  PIKFYVE,  C9JL08,  E9PDH4,  F8WEZ0,  Q9Y2I7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM