Disease-gene associations mined from literature

Literature associating WDR91 and cerebellar ataxia, mental retardation and dysequlibrium syndrome

WDR91 [ENSP00000346466]

WD repeat-containing protein 91; Functions as a negative regulator of the PI3 kinase/PI3K activity associated with endosomal membranes via BECN1, a core subunit of the PI3K complex. By modifying the phosphatidylinositol 3-phosphate/PtdInsP3 content of endosomal membranes may regulate endosome fusion, recycling, sorting and early to late endosome transport. It is for instance, required for the delivery of cargos like BST2/tetherin from early to late endosome and thereby participates indirectly to their degradation by the lysosome. May play a role in meiosis (By similarity); Belongs to the WD repeat WDR91 family.

Synonyms:  WDR91,  WDR91p,  hWDR91,  A4D1P6,  C9J1X0 ...

Linkouts:  STRING  Pharos  UniProt