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.;
OMIM relation
