SLC22A5 wt Allele

Preferred Label : SLC22A5 wt Allele;

NCIt synonyms : Systemic Carnitine Deficiency Gene; Solute Carrier Family 22 (Organic Cation Transporter), Member 5 Gene; CDSP; OCTN2; Solute Carrier Family 22 (Organic Cation/Carnitine Transporter), Member 5 Gene; Solute Carrier Family 22 Member 5 wt Allele; Carnitine Deficiency, Systemic Primary Gene;

NCIt definition : Human SLC22A5 wild-type allele is located in the vicinity of 5q31.1 and is approximately 26 kb in length. This allele, which encodes organic cation/carnitine transporter 2 protein, is involved in both organic cation transport and sodium-dependent carnitine uptake. Mutations in the gene are associated with primary carnitine deficiency.;

GenBank Accession Number : AF057164;

Détails

Origin ID

C207902;

OMIM relation
- Solute carrier family 22 (organic cation transporter), member 5 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5q31.1 [NCIt concept]
gene_plays_role_in_process
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]
- Xenobiotic Metabolism [NCIt concept]

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