Literature associating VAC14 and Yunis-Varon syndrome
Vac14 homolog (S. cerevisiae); The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Acts as a positive activator of PIKfyve kinase activity. Also required to maintain normal levels of phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 5-phosphate (PtdIns(5)P). Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes; Belongs to the VAC14 family.
Synonyms: VAC14, VAC14p, hVAC14, B3KSM8, DKFZP434J032 ...