HADHB - hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta Gene

Also Known as ECHB; MTPB; MSTP029; TP-BETA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3032

About HADHB

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:26,244,939-26,290,465 (from NCBI)

This gene has 9 transcripts (splice variants), 215 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 140.9), duodenum (RPKM 87.4) and 25 other tissues.

Summary

This gene encodes the beta subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the beta subunit catalyzing the 3-ketoacyl-CoA thiolase activity. The encoded protein can also bind RNA and decreases the stability of some mRNAs. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each Other in the human genome in a head-to-head orientation. Mutations in this gene result in trifunctional protein deficiency. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]

HADHB Products (3)

mRNA	Protein	Name
NM_000183.3	NP_000174.1	trifunctional enzyme subunit beta, mitochondrial isoform 1 precursor
NM_001281512.2	NP_001268441.1	trifunctional enzyme subunit beta, mitochondrial isoform 2 precursor
NM_001281513.2	NP_001268442.1	trifunctional enzyme subunit beta, mitochondrial isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20562859	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in fatty acid beta-oxidation	IDA IDA: Inferred from direct assay	29915090	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	21527675	GOA
part of mitochondrial fatty acid beta-oxidation multienzyme complex	IPI IPI: Inferred from physical interaction	29915090	GOA
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	21527675	GOA
located in mitochondrial nucleoid	IDA IDA: Inferred from direct assay	18063578	GOA
located in mitochondrial outer membrane	IDA IDA: Inferred from direct assay	21527675	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HADHB Protein Structure

Thiolase_N

Thiolase_C

0
100
200
300
400
474 a.a.

Protein Preferred Names	Protein Names
trifunctional enzyme subunit beta, mitochondrial	2-enoyl-Coenzyme A (CoA) hydratase, beta subunit

HADHB Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	HADHB	P55084	HADHA	Homo sapiens	P40939	GMS	30850536
Intra	HADHB	P55084	HADHA	Homo sapiens	P40939	X-Ray Diffraction	30850536
Intra	HADHB	P55084	HADHA	Homo sapiens	P40939	Anti Tag CoIP	28514442
Intra	HADHB	P55084	GABARAPL1	Homo sapiens	Q9H0R8	Pull Down	20562859

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant HADHB Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71471	HADHB Protein, Human (GST)	P55084-1 (A35-P283)	≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Mitochondrial Trifunctional Protein Deficiency	Tfp Deficiency MTPD Trifunctional Protein Deficiency Trifunctional Protein Deficiency With Myopathy And Neuropathy Tfpd Familial Hypertrophic Cardiomyopathy Cardiomyopathy Familial Hypertrophic Familial Hcm Heritable Hypertrophic Cardiomyopathy Mtp Deficiency Tpa Deficiency Trifunctional Protein Deficiency, Type 2 Abetalipoproteinemia
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	LCHAD DEFICIENCY Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency AFLP Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency Fatty Liver, Acute, Of Pregnancy Acute Fatty Liver Of Pregnancy Long-Chain 3-Oh Acyl-Coa Dehydrogenase Deficiency Long-Chain 3-Hydroxy Acyl Coa Dehydrogenase Deficiency Trifunctional Protein Deficiency, Type 1 Hellp Syndrome, Maternal, Of Pregnancy Acute Fatty Liver, Gestational 3-Hydroxyacyl-Coa Dehydrogenase Long Chain Deficiency 3-Hydroxyacyl-Coa Dehydrogenase, Long Chain, Deficiency Lchadd Long-Chain 3-Hydroxyl-Coa Dehydrogenase Deficiency Maternal Acute Fatty Liver Of Pregnancy Trifunctional Protein Deficiency Type 1 Trifunctional Protein Deficiency With Myopathy And Neuropathy
Rhizomelic Chondrodysplasia Punctata	Chondrodysplasia Punctata, Rhizomelic Rcdp Chondrodysplasia Punctata, Rhizomelic Form Rcp Chondrodysplasia Punctata Rhizomelic
Hypoglycemia	Hypoglycaemia Low Blood Sugar Hypoglycaemia Nos Spontaneous Hypoglycaemia Nondiabetic Hypoglycaemia Hypoglycaemic Disorder Nos Hypoglycaemic Syndrome
Rhizomelic Chondrodysplasia Punctata, Type 1	Rhizomelic Chondrodysplasia Punctata Type 1 RCDP1 Peroxisome Biogenesis Disorder 9 Pbd9 Chondrodysplasia Punctata, Rhizomelic Form Cdpr Chondrodystrophia Calcificans Punctata Rhizomelic Chondrodysplasia Punctata 1 Chondrodysplasia Punctata, Rhizomelic, Type 1 Chondrodysplasia Punctata, Rhizomelic
D-Bifunctional Protein Deficiency	Bifunctional Peroxisomal Enzyme Deficiency 17-Beta-Hydroxysteroid Dehydrogenase Iv Deficiency Dbp Deficiency Peroxisomal Bifunctional Enzyme Deficiency Pbfe Deficiency Bifunctional Enzyme Deficiency Pseudo-Zellweger Syndrome Zellweger-Like Syndrome DBPD Protein Deficiency, D-Bifunctional
Zellweger Syndrome	Cerebrohepatorenal Syndrome Zellweger Leukodystrophy Zs Congenital Iron Overload Chr Zws Severe Pbd-Zsd Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Peroxisomal Disease	Peroxisomal Disorder Peroxisomal Disorders Peroxisomal Defects
Abetalipoproteinemia	Acanthocytosis ABL Bassen-Kornzweig Syndrome Mtp Deficiency Familial Hypobetalipoproteinemia Abetalipoproteinaemia Microsomal Triglyceride Transfer Protein Deficiency Microsomal Triglyceride Transfer Protein Deficiency Disease Abetalipoproteinemia Neuropathy Apolipoprotein B Deficiency Bassen-Kornzweig Disease Betalipoprotein Deficiency Disease Congenital Betalipoprotein Deficiency Syndrome Homozygous Familial Hypobetalipoproteinemia Fhbl Bassen Kornzweig Syndrome Hypobetalipoproteinemia, Familial Hypobetalipoproteinemia Hypobetalipoproteinemias Hypobetalipoproteinemia, Familial, Apolipoprotein B
Erythroleukemia
Adrenoleukodystrophy	X-Linked Adrenoleukodystrophy ALD Siemerling-Creutzfeldt Disease X-Ald X-Linked Cerebral Adrenoleukodystrophy Bronze Schilder Disease Melanodermic Leukodystrophy Addison Disease And Cerebral Sclerosis Adrenomyeloneuropathy, Adult Diffuse Sclerosis X-Cald Adrenomyeloneuropathy Encephalitis Periaxialis Concentrica Encephalitis Periaxialis, Schilder'S Sudanophilic Cerebral Sclerosis Ald Childhood Cerebral Form Adrenoleukodystrophy X-Linked Cerebral Form Adrenoleukodystrophy Childhood Cerebral Form Childhood Cerebral Ald Schilder Disease X-Linked Ald Adrenoleukodystrophy, X-Linked Amn Diffuse Cerebral Sclerosis Of Schilder Systemic Scleroderma Balo'S Concentric Sclerosis Ald - [Adrenoleukodystrophy] Addison-Schilder
Carnitine Palmitoyltransferase I Deficiency	Carnitine Palmitoyl Transferase 1a Deficiency Cpt1a Deficiency Cpt I Deficiency Carnitine Palmitoyl Transferase Ia Deficiency Hepatic Carnitine Palmitoyl Transferase 1 Deficiency Hepatic Carnitine Palmitoyl Transferase I Deficiency L-Cpt1 Deficiency Carnitine Palmitoyltransferase 1a Deficiency Carnitine Palmitoyltransferase Ia Deficiency Cpt Deficiency, Hepatic, Type I Cpt Deficiency, Hepatic, Type Ia Hepatic Carnitine Palmitoyltransferase 1 Deficiency L-Cpti Deficiency Hepatic Cpt Deficiency Type I Hepatic Cpt1 L-Cpt 1 Deficiency Cpt 1a Deficiency Liver Form Of Carnitine Palmitoyltransferase Deficiency CPT1AD Cpt-I Deficiency
Carnitine Deficiency, Systemic Primary	Carnitine Uptake Defect Renal Carnitine Transport Defect Systemic Primary Carnitine Deficiency CDSP Systemic Carnitine Deficiency Carnitine Transporter Deficiency Cud Primary Carnitine Deficiency Carnitine Uptake Deficiency Carnitine Deficiency, Systemic, Due To Defect In Renal Reabsorption Of Carnitine Carnitine Deficiency, Primary Systemic Primary Carnitine Deficiency Disease Deficiency Of Plasma-Membrane Carnitine Transporter Scd Carnitine Transporter, Plasma-Membrane, Deficiency Of Carnitine Transport Defect Carnitine Plasma-Membrane Transporter Deficiency Carnitine Transporter Defect Spcd
Respiratory Failure	Acute Respiratory Failure Chronic Respiratory Failure Respiratory Insufficiency Acute-On-Chronic Respiratory Failure Respiratory Disease Acute And Chronic Respiratory Failure Respiratory Insufficiency/Failure Chronic Respiratory Disease Pulmonary Valve Insufficiency Chronic Disease Of Respiratory System Respiration Disorders Respiratory Tract Diseases Lung Failure Nos Pulmonary Failure Arf - [Acute Respiratory Failure] Acute Respiratory Insufficiency Acute Pulmonary Insufficiency Acute Respiration Failure Chronic Respiration Failure
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Vlcad Deficiency Very Long Chain Acyl-Coa Dehydrogenase Deficiency Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Lcad Deficiency Very Long-Chain Acyl-Coa Dehydrogenase Deficiency Long Chain Acyl-Coa Dehydrogenase Deficiency ACADVLD Acadl Deficiency Vlcadd Long-Chain Acyl-Coa Dehydrogenase Deficiency Acadvl Acyl-Coa Dehydrogenase Very Long Chain Deficiency Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency Vlcad-C Vlcad-H Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency Of Acyl-Coa Dehydrogenase Very Long-Chain Deficiency Acyl-Coa Dehydrogenase Long-Chain Deficiency Deficiency, Very Long Chain Acyl-Coa Dehydrogenase Long Chain/Very Long Chain Acyl Coa Dehydrogenase Deficiency
Chronic Polyneuropathy
Sudden Infant Death Syndrome	SIDS Sudden Infant Death Syndrome, Susceptibility To Cot Death Crib Death Sudden Death Of Nonspecific Cause In Infancy Sudden Infant Death Death, Sudden, Syndrome, Infant
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Multiple Acyl-Coa Dehydrogenase Deficiency	MADD Ethylmalonic-Adipicaciduria Ema Glutaric Acidemia Iia Glutaric Acidemia Iib Ga Ii Glutaric Acidemia Iic Glutaric Acidemia Type 2 Glutaric Acidemia Ii Glutaric Aciduria Ii Electron Transfer Flavoprotein Deficiency Glutaric Aciduria Type 2 Mad Deficiency Glutaric Acidemia Type Ii Glutaric Aciduria 2 Etfa Deficiency Etfb Deficiency Etfdh Deficiency Multiple Acyl Coenzyme A Dehydrogenase Deficiency Ga2 Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency Electron Transfer Flavoprotein Dehydrogenase Deficiency Ga 2 Glutaric Acidemia 2 Glutaric Acidemia, Type 2 Glutaric Aciduria, Type 2 Mad Multiple Fad Dehydrogenase Deficiency Ethylmalonic Adipic Aciduria Glutaricaciduria Ii Glutaric Aciduria 2a GA2A Gaiia Glutaricaciduria Iia Glutaric Aciduria 2b GA2B Gaiib Glutaricaciduria Iib Glutaric Aciduria 2c GA2C Gaiic Glutaricaciduria Iic Glutaricaciduria, Type Iia Glutaric Acidemia Type 2a Glutaric Acidemia Type 2c Glutaric Aciduria Iia Glutaric Aciduria Iib Glutaric Aciduria Iic
Myopathy	Muscular Diseases Myopathies

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05991	HADHB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18664	Hadhb Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25150	Hadhb Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	HADHB	VGNC	VGNC:80110
Mus musculus	HADHB	MGD	MGI:2136381
Rattus norvegicus	HADHB	RGD	RGD:620513
Macaca mulatta	HADHB	VGNC	VGNC:106170
Bos taurus	HADHB	VGNC	VGNC:49554
Others	HADHB	NCBI