DISEASES

Disease-gene associations mined from literature

Literature on VPS53

VPS53 [ENSP00000401435]

Vacuolar protein sorting-associated protein 53 homolog; 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 . Acts as component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized transferrin receptor (TFRC) to the plasma membrane ; Belongs to the VPS53 family.

Synonyms:  VPS53,  VPS53p,  hVPS53,  E7EVT8,  F6VX93 ...

Linkouts:  STRING  Pharos  UniProt  OMIM