Aliases for VPS53 Gene
External Ids for VPS53 Gene
This gene encodes a protein with sequence similarity to the yeast Vps53p protein. Vps53p is involved in retrograde vesicle trafficking in late Golgi. [provided by RefSeq, Jul 2008]
GeneCards Summary for VPS53 Gene
VPS53 (Vacuolar Protein Sorting 53 Homolog (S. Cerevisiae)) is a Protein Coding gene. Diseases associated with VPS53 include pontocerebellar hypoplasia, type 2e and pontocerebellar hypoplasia type 2d.
UniProtKB/Swiss-Prot for VPS53 Gene
May be involved in retrograde transport of early and late endosomes to the late Golgi. 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.