HADHA

HADHA (Hydroxyacyl-CoA Dehydrogenase/3-Ketoacyl-CoA Thiolase/Enoyl-CoA Hydratase (Trifunctional Protein), Alpha Subunit) is a protein that in humans is encoded by the HADHA gene. It is located on chromosome 2 and is involved in the process of fatty acid oxidation, a critical step in the metabolism of fatty acids.

Function

The HADHA gene provides instructions for making a protein that is a part of a larger enzyme complex known as the mitochondrial trifunctional protein (MTP). This complex is found in the mitochondria, the energy-producing centers within cells. The MTP has three different activities, each performed by a different part of the complex. The protein produced from the HADHA gene carries out two of these activities: the hydration of 2-enoyl-CoA esters and the dehydrogenation of 3-hydroxyacyl-CoA.

Clinical significance

Mutations in the HADHA gene can lead to a condition known as Trifunctional protein deficiency (TFPD). This condition disrupts the breakdown of certain fats, leading to a variety of symptoms including hypoglycemia, cardiomyopathy, and sudden death. TFPD is a rare condition, affecting less than 1 in 100,000 individuals worldwide.

See also

• Fatty acid metabolism
• Mitochondrial trifunctional protein
• Trifunctional protein deficiency