Disease-gene associations mined from literature

Literature associating PIKFYVE and Charcot-Marie-Tooth disease type 4

PIKFYVE [ENSP00000264380]

Phosphatidylinositol 3-phosphate 5-kinase type III; 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; Zinc fingers FYVE-type

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

Linkouts:  STRING  Pharos  UniProt  OMIM