AlphaFold predicted structure
HADHB · P55084
Mean pLDDT
91.1/ 100
Very high
474 residues
Confidence breakdown
- Very high(≥ 90)84%
- Confident(70–90)7%
- Low(50–70)1%
- Very low(< 50)8%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
HADHB
Chr 2p23.3hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
- Aliases:
- MTPB
- MANE:
- ENST00000317799.10
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Acute rhabdomyolysis
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalHereditary neuropathy
BIALLELIC, autosomal or pseudoautosomalHereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomalHyperammonaemia
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalPaediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
mitochondrial trifunctional protein deficiency 2
0.80mitochondrial trifunctional protein deficiency
0.78mitochondrial trifunctional protein deficiency 1
0.70long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
0.49neurodegenerative disease
0.34alcohol drinking
0.26gastrointestinal disease
0.26complication
0.26hereditary disease
0.19metabolic acidosis
0.12
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Trifunctional enzyme subunit beta, mitochondrial
Mitochondrial trifunctional enzyme catalyzes the last three of the four reactions of the mitochondrial beta-oxidation pathway (PubMed:1550553, PubMed:16423905, PubMed:26474213, PubMed:29915090, PubMed:30850536, PubMed:8135828). The mitochondrial beta-oxidation pathway is the major energy-producing process in tissues and is performed through cycles of four consecutive reactions (PubMed:26474213, PubMed:29915090). Each beta-oxidation cycle shortens the fatty acyl-CoA by two carbons, yielding one acetyl-CoA (for the citric acid cycle), one FADH(2), and one NADH (which donate electrons to the respiratory chain for ATP production) (PubMed:26474213, PubMed:29915090). These cycles repeat until the chain is fully degraded to acetyl-CoA units (PubMed:26474213, PubMed:29915090). Among the enzymes involved in this pathway, the trifunctional protein, responsible for the hydration, dehydrogenation, and thiolysis steps, shows specificity for long-chain fatty acids, such as those from dietary and stored fats (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:16423905, PubMed:26474213, PubMed:29915090, PubMed:30850536, PubMed:38372965, PubMed:8135828). These activities have been experimentally confirmed on a few substrates derived from beta-oxidation of long-chain saturated fatty acids such as palmitate (hexadecanoate) and laurate (dodecanoate) (PubMed:1550553, PubMed:8135828, PubMed:8163672, PubMed:8651282). In addition, based on its established catalytic mechanism, and combined genetic interaction or mutant phenotype evidence, it is predicted to act also on other substrates, including long-chain unsaturated fatty acids such as oleate (9Z-octadecenoate), linoleate (9Z,12Z-octadecadienoate), linolenate (9Z,12Z,15Z-octadecatrienoate), and others (Probable) (PubMed:26474213)