DISEASES

Disease-gene associations mined from literature

Literature associating VPS54 and cerebellar ataxia, mental retardation and dysequlibrium syndrome

VPS54 [ENSP00000272322]

Vacuolar protein sorting 54 homolog (S. cerevisiae); Acts as component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD. Within the GARP complex, required to tether the complex to the TGN. Not involved in endocytic recycling; Belongs to the VPS54 family.

Synonyms:  VPS54,  VPS54p,  hVPS54,  Q9P1Q0,  HCC8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM