SLC22A5 wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - CDSP - Carnitine Deficiency, Systemic Primary Gene - OCTN2 - Solute Carrier Family 22 (Organic Cation Transporter), Member 5 Gene - Solute Carrier Family 22 (Organic Cation/Carnitine Transporter), Member 5 Gene - Solute Carrier Family 22 Member 5 wt Allele - Systemic Carnitine Deficiency Gene