HADHB
Function
Mitochondrial trifunctional enzyme catalyzes the last three of the four reactions of the mitochondrial beta-oxidation pathway (PubMed:29915090, PubMed:30850536, PubMed:8135828). The mitochondrial beta-oxidation pathway is the major energy-producing process in tissues and is performed through four consecutive reactions breaking down fatty acids into acetyl-CoA (PubMed:29915090). Among the enzymes involved in this pathway, the trifunctional enzyme exhibits specificity for long-chain fatty acids (PubMed:30850536). Mitochondrial trifunctional enzyme is a heterotetrameric complex composed of two proteins, the trifunctional enzyme subunit alpha/HADHA carries the 2,3-enoyl-CoA hydratase and the 3-hydroxyacyl-CoA dehydrogenase activities, while the trifunctional enzyme subunit beta/HADHB described here bears the 3-ketoacyl-CoA thiolase activity (PubMed:29915090, PubMed:30850536, PubMed:8135828).
Involvement in disease
Mitochondrial trifunctional protein deficiency 2
MTPD2
An autosomal recessive metabolic disorder of long-chain fatty acid oxidation, biochemically characterized by loss of all enzyme activities of the mitochondrial trifunctional protein complex. The disease phenotype ranges from a fatal form characterized by early-onset cardiomyopathy, cardiac failure and early death to less severe, late-onset forms with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy as key features.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Lipid metabolism; fatty acid beta-oxidation.
Sequence Similarities
Belongs to the thiolase-like superfamily. Thiolase family.
Cellular localization
- Mitochondrion
- Mitochondrion inner membrane
- Mitochondrion outer membrane
- Endoplasmic reticulum
- Protein stability and association with membranes require HADHA.
Alternative names
MSTP029, HADHB, TP-beta