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