Gene:
solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
Description:
The protein encoded by this gene is located at the mitochondrial inner membrane where it transfers fatty acylcarnitines into mitochondria. Thus it is critical in the fatty acid oxidation process. A defect in this translocase impairs oxidation of fatty acids and can cause a varieties of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness.