VPS53 wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - FLJ10979 - HCCS1 - Hepatocellular Carcinoma Suppressor 1 Gene - PCH2E - PP13624 - VPS53 Subunit of GARP Complex wt Allele - VPS53, GARP Complex Subunit Gene - Vacuolar Protein Sorting 53 (Yeast) Gene - Vacuolar Protein Sorting 53 Homolog (S. cerevisiae) Gene - Vacuolar Protein Sorting 53, S. cerevisiae, Homolog of Gene - hVps53L - pp13624