OCTN2/SLC22A5: cDNA Clones

Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for the elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. SLC22A5 is an integral plasma membrane protein which functions as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. Mutations in SLC22A5 are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy.