Disease-gene associations mined from literature

Literature associating VAC14 and Yunis-Varon syndrome

VAC14 [ENSP00000261776]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM