VPS53 wt Allele

Preferred Label : VPS53 wt Allele;

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.;

GenBank Accession Number : NM_018289;

Détails

Origin ID

C213542;

OMIM relation
- Vps53 subunit of garp complex [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17p13.3 [NCIt concept]
gene_plays_role_in_process
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Transport Process [NCIt concept]

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