Mitochondrial trifunctional protein
Encyclopedia
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
which catalyzes several reactions in beta oxidation
Beta oxidation
Beta oxidation is the process by which fatty acids, in the form of Acyl-CoA molecules, are broken down in mitochondria and/or in peroxisomes to generate Acetyl-CoA, the entry molecule for the Citric Acid cycle....
. It has two subunits:
- HADHAHADHAHADHA is a gene associated with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.-See also:* Mitochondrial trifunctional protein...
- HADHBHADHBTrifunctional enzyme subunit beta, mitochondrial also known as 3-ketoacyl-CoA thiolase, acetyl-CoA acyltransferase, or beta-ketothiolase is an enzyme that in humans is encoded by the HADHB gene....
The three functions are long-chain 3-hydroxy acyl-coenzyme A dehydrogenase, 2-enoyl coenzyme A (CoA) hydratase, and long-chain 3-ketoacyl CoA thiolase.
Pathology
Disorders are associated with:- Mitochondrial trifunctional protein deficiencyMitochondrial trifunctional protein deficiencyMitochondrial trifunctional protein deficiency is an autosomal recessive fatty acid oxidation disorder that prevents the body from converting certain fats to energy, particularly during periods without food...
- LCHAD deficiencyLong-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiencyLong-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, often shortened to LCHAD deficiency, is a rare autosomal recessive fatty acid oxidation disorder that prevents the body from converting certain fats into energy...