Functional domains in the carnitine transporter OCTN2, defective in primary carnitine deficiency.

Abstract excerpt

Primary carnitine deficiency is an autosomal recessive disorder of fatty acid oxidation characterized by hypoketotic hypoglycemia and skeletal and cardiac myopathy. It is caused by mutations in the Na+-dependent organic cation transporter, OCTN2. To define the domains involved in carnitine recognition, we evaluated chimeric transporters created by swapping homologous domains between OCTN1, which does not...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Arginine
• Share to Carnitine
• Share to Leucine