Hydroxyacyl Coenzyme A Dehydrogenase (HADH)

HADH is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene.Human HADH encodes a deduced 314-amino acid protein composed of a 12-residue mitochondrial import signal peptide and a 302-residue mature HADH protein with a calculated molecular mass of 34.3 kD. The sequence of the mature protein shows 94% identity with HADH from pig heart. Northern blot analysis revealed expression of HADH in liver, kidney, pancreas, heart, and skeletal muscle.