NCIt synonyms : VPS53 Subunit of GARP Complex wt Allele; Vacuolar Protein Sorting 53 (Yeast) Gene; Hepatocellular Carcinoma Suppressor 1 Gene; PP13624; FLJ10979; hVps53L; VPS53, GARP Complex Subunit Gene; Vacuolar Protein Sorting 53, S. cerevisiae, Homolog of Gene; Vacuolar Protein Sorting 53 Homolog (S. cerevisiae) Gene; HCCS1; PCH2E;
NCIt definition : Human VPS53 wild-type allele is located in the vicinity of 17p13.3 and is approximately
213 kb in length. This allele, which encodes vacuolar protein sorting-associated protein
53 homolog protein, plays a role in endocytic recycling, retrograde transport from
endosomes to Golgi and lysosomal transport. Mutations in the gene are associated with
pontocerebellar hypoplasia type 2E.;
OMIM relation