OCTN3 Background Information
Carnitine (b-hydroxy-g-trimethylaminobutyrate) is a small, highly polar compound that aids in the b-oxidation of long-chain fatty acids. Organic cation/carnitine transporters (OCTN) assist in the elimination of cationic compounds, including xenobiotics, and transport carnitine for reabsorption in the kidney. Similar to organic cation transporters (OCT), OCTN proteins localize to the plasma membrane of epithelial cells. OCTN1 is expressed in kidney, trachea, bone marrow and fetal liver. OCTN2 is abundantly expressed in kidney, skeletal muscle, placenta and heart. OCTN3 is strongly expressed in testis and weakly expressed in kidney. The gene encoding human OCTN1 maps to chromosome 5 and the gene encoding human OCTN2 maps to chromosome 5q31. Mutations in the gene encoding OCTN2 leads to systemic carnitine deficiency (SCD), an autosomal recessive disorder characterized by cardiomyopathy, skeletal myopathy, lethargy, hypoglycemia and hyperammonemia.
