HADHB
entrez
3032
canonical
uniprot
P55084
canonical
ensembl
ENSG00000138029
resolver
ensp
ENSP00000325136
resolver
ensp
ENSP00000442665
resolver
ensp
ENSP00000444295
resolver
ensp
ENSP00000529657
resolver
ensp
ENSP00000612499
resolver
ensp
ENSP00000612501
resolver
ensp
ENSP00000612502
resolver
ensp
ENSP00000612503
resolver
enst
ENST00000537713
resolver
enst
ENST00000859598
resolver
enst
ENST00000942442
resolver
enst
ENST00000942443
resolver
enst
ENST00000942444
resolver
genesymbol
HADHB
resolver
hgnc
HGNC:4803
resolver
uniprot
B2RB16
resolver
uniprot
B4E2W0
resolver
uniprot
F5GZQ3
resolver
uniprot
O14969
resolver
uniprot
Q53TA6
resolver
uniprot
Q96C77
resolver
uniprot
Q9H3F5
resolver
uniprot
Q9T2V8
resolver
uniprot_entry
ECHB_HUMAN
resolver
uniprot_entry
F5GZQ3_HUMAN
resolver
uniprot_sec
B2RB16
resolver
uniprot_sec
B4E2W0
resolver
uniprot_sec
O14969
resolver
uniprot_sec
Q53TA6
resolver
uniprot_sec
Q96C77
resolver
uniprot_sec
Q9H3F5
resolver
uniprot_sec
Q9T2V8
resolver
amino_acid_sequence
MTILTYPFKNLPTASKWALRFSIRPLSCSSQLRAAPAVQTKTKKTLAKPNIRNVVVVDGVRTPFLLSGTSYKDLMPHDLARAALTGLLHRTSVPKEVVDYIIFGTVIQEVKTSNVAREAALGAGFSDKTPAHTVTMACISANQAMTTGVGLIASGQCDVIVAGGVELMSDVPIRHSRKMRKLMLDLNKAKSMGQRLSLISKFRFNFLAPELPAVSEFSTSETMGHSADRLAAAFAVSRLEQDEYALRSHSLAKKAQDEGLLSDVVPFKVPGKDTVTKDNGIRPSSLEQMAKLKPAFIKPYGTVTAANSSFLTDGASAMLIMAEEKALAMGYKPKAYLRDFMYVSQDPKDQLLLGPTYATPKVLEKAGLTMNDIDAFEFHEAFSGQILANFKAMDSDWFAENYMGRKTKVGLPPLEKFNNWGGSLSLGHPFGATGCRLVMAAANRLRKEGGQYGLVAACAAGGQGHAMIVEAYPK
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial trifunctional protein deficiency 2 (MTPD2) [MIM:620300]: 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. {ECO:0000269|PubMed:12754706, ECO:0000269|PubMed:8651282, ECO:0000269|PubMed:9259266}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.16
uniprot
proteins
function
FUNCTION: 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). {ECO:0000269|PubMed:1550553, ECO:0000269|PubMed:16423905, ECO:0000269|PubMed:29915090, ECO:0000269|PubMed:30850536, ECO:0000269|PubMed:38372965, ECO:0000269|PubMed:8135828, ECO:0000269|PubMed:8163672, ECO:0000269|PubMed:8651282, ECO:0000303|PubMed:26474213, ECO:0000303|PubMed:29915090, ECO:0000303|PubMed:30850536, ECO:0000305|PubMed:38372965}.
uniprot
proteins
mass_dalton
51294
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; fatty acid beta-oxidation. {ECO:0000269|PubMed:8135828}.
uniprot
proteins
protein_family
Thiolase family
uniprot
proteins
protein_family
Thiolase-like superfamily
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
12754706
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15242332
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1550553
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16423905
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21527675
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26474213
uniprot
proteins
pubmed
29915090
uniprot
proteins
pubmed
30850536
uniprot
proteins
pubmed
32243843
uniprot
proteins
pubmed
38372965
uniprot
proteins
pubmed
7958339
uniprot
proteins
pubmed
8135828
uniprot
proteins
pubmed
8163672
uniprot
proteins
pubmed
8651282
uniprot
proteins
pubmed
9259266
uniprot
proteins
sequence_length
474
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:21527675}. Mitochondrion inner membrane {ECO:0000269|PubMed:21527675}. Mitochondrion outer membrane {ECO:0000269|PubMed:21527675}. Endoplasmic reticulum {ECO:0000269|PubMed:21527675}. Note=Protein stability and association with membranes require HADHA. {ECO:0000269|PubMed:29915090}.
uniprot
proteins