HADHB

HADHB (Hydroxyacyl-CoA Dehydrogenase Beta Subunit) is a protein that in humans is encoded by the HADHB gene. It is a subunit of the trifunctional protein, which is a complex of enzymes involved in the metabolism of fatty acids, specifically in the mitochondrial beta-oxidation pathway.

Etymology

The term "HADHB" is an acronym derived from "Hydroxyacyl-CoA Dehydrogenase Beta". "Hydroxyacyl" refers to the chemical structure of the substrate the enzyme acts on, "CoA" is short for Coenzyme A, a molecule that carries acyl groups in metabolic reactions, "Dehydrogenase" refers to the type of reaction the enzyme catalyzes, and "Beta" refers to the specific subunit of the trifunctional protein complex.

Function

HADHB is a subunit of the trifunctional protein, which is a complex of enzymes involved in the metabolism of fatty acids, specifically in the mitochondrial beta-oxidation pathway. This pathway is responsible for the breakdown of fatty acids into acetyl-CoA, which can then be used in the citric acid cycle to produce energy.

Clinical Significance

Mutations in the HADHB gene can lead to a condition known as mitochondrial trifunctional protein deficiency. This condition can cause a wide range of symptoms, including muscle weakness, heart problems, and neurological issues. It is a rare condition, but can be serious and even life-threatening in severe cases.

Related Terms

• Mitochondria
• Mitochondrial Trifunctional Protein Deficiency
• Citric Acid Cycle
• Fatty Acid Metabolism

HADHB Resources
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