Disease-gene associations mined from literature

Literature associating WDR81 and cerebellar ataxia, mental retardation and dysequlibrium syndrome

WDR81 [ENSP00000386609]

WD repeat-containing protein 81; 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 also play a role in aggrephagy, the macroautophagic degradation of ubiquitinated protein aggregates. In this process, may regulate the interaction of SQSTM1 with ubiquitinated proteins and also recruit MAP1LC3C. May also be involved in maintenance of normal mitochondrial structure and organization (By similarity); Belongs to the WD repeat WDR81 family.

Synonyms:  WDR81,  WDR81p,  hWDR81,  I3L3U7,  Q562E7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM