DISEASES

Disease-gene associations mined from literature

Literature associating VAC14 and Charcot-Marie-Tooth disease type 4B2

VAC14 [ENSP00000261776]

Protein VAC14 homolog; 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.

Synonyms:  VAC14,  VAC14p,  hVAC14,  A0A087WT26,  H3BN23 ...

Linkouts:  STRING  Pharos  UniProt  OMIM