Disease-gene associations mined from literature

Literature associating FIG4 and Yunis-Varon syndrome

FIG4 [ENSP00000230124]

Phosphatidylinositol 3,5-bisphosphate 5-phosphatase; The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). In vitro, hydrolyzes all three D5-phosphorylated polyphosphoinositide substrates in the order PtdIns(4,5)P2 > PtdIns(3,5)P2 > PtdIns(3,4,5)P3. Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes.

Synonyms:  FIG4,  FIG4p,  hFIG4,  Q5JRV4,  Q5TCS4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM