VPS13C wt Allele

Preferred Label : VPS13C wt Allele;

NCIt synonyms : Vacuolar Protein Sorting 13 Homolog C wt Allele; FLJ20136; BLTP5C; Vacuolar Protein Sorting 13 Homolog C (S. cerevisiae) Gene; KIAA1421; Bridge-Like Lipid Transfer Protein Family Member 5C Gene; Vacuolar Protein Sorting 13C (Yeast) Gene; FLJ10381; PARK23;

NCIt definition : Human VPS13C wild-type allele is located in the vicinity of 15q22.2 and is approximately 208 kb in length. This allele, which encodes intermembrane lipid transfer protein VPS13C, is involved in mitochondrial maintenance and the transfer of lipids among organelle membranes. Mutations in the gene are associated with autosomal recessive early-onset Parkinson disease 23.;

GenBank Accession Number : AJ608770;

Détails

Origin ID

C213537;

OMIM relation
- Vacuolar protein sorting 13 homolog C [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 15q22.2 [NCIt concept]
gene_plays_role_in_process
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Lipid Transport [NCIt concept]
- Transport Process [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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