HADH Human
Description
Product Specs
Product Science Overview
Hydroxyacyl-Coenzyme A Dehydrogenase (HADH) is an enzyme that plays a crucial role in the metabolism of fatty acids. It is encoded by the HADH gene in humans and is involved in the beta-oxidation pathway, which is essential for the breakdown of fatty acids to produce energy. The recombinant form of this enzyme is produced through genetic engineering techniques, allowing for its use in various research and clinical applications.
HADH functions primarily in the mitochondrial matrix, where it catalyzes the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway . This pathway is critical for the metabolism of fatty acids, converting them into acetyl-CoA, which can then enter the citric acid cycle to produce ATP, the energy currency of the cell. The enzyme exhibits the highest activity with medium-chain-length fatty acids .
Mutations in the HADH gene can lead to various metabolic disorders. One such condition is familial hyperinsulinemic hypoglycemia, which is characterized by excessive insulin secretion and low blood sugar levels . Additionally, HADH deficiency can result in 3-hydroxyacyl-CoA dehydrogenase deficiency, a metabolic disorder that affects the body’s ability to break down fatty acids . Several mutations, including missense, nonsense, splicing mutations, and small deletions, have been identified as causes of these diseases .
The recombinant form of HADH is produced using genetic engineering techniques, where the HADH gene is inserted into a suitable expression system, such as bacteria or yeast. This allows for the large-scale production of the enzyme, which can be purified and used for various research and clinical purposes. Recombinant HADH is valuable in studying the enzyme’s structure, function, and role in metabolic disorders. It is also used in developing diagnostic assays and potential therapeutic interventions.
