HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha [Homo sapiens (human)] - Gene

Summary

Official Symbol: HADHAprovided by HGNC
Official Full Name: hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alphaprovided by HGNC
Primary source: HGNC:HGNC:4801
See related: Ensembl:ENSG00000084754 MIM:600890; AllianceGenome:HGNC:4801
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GBP; ECHA; HADH; LCEH; MTPA; LCHAD; TP-ALPHA
Summary: This gene encodes the alpha 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 alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. 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. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in duodenum (RPKM 119.6), small intestine (RPKM 107.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p23.3

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (26190635..26244632, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (26225960..26279973, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (26413504..26467500, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cardiac phenotype in adolescents and young adults with long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency.
Title: Cardiac phenotype in adolescents and young adults with long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency.
HADHA promotes glioma progression by accelerating MDM2-mediated p53 ubiquitination.
Title: HADHA promotes glioma progression by accelerating MDM2-mediated p53 ubiquitination.
An Autopsy Analysis of a Patient With Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Caused by Compound Heterozygous HADHA Gene Mutations.
Title: An Autopsy Analysis of a Patient With Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Caused by Compound Heterozygous HADHA Gene Mutations.
Zfp335 establishes eTreg lineage and neonatal immune tolerance by targeting Hadha-mediated fatty acid oxidation.
Title: Zfp335 establishes eTreg lineage and neonatal immune tolerance by targeting Hadha-mediated fatty acid oxidation.
[HADHA Inhibits the Migration and Invasion of HTR-8/SVneo Cells by Regulating PI3K/AKT Signaling Pathway].
Title: [HADHA Inhibits the Migration and Invasion of HTR-8/SVneo Cells by Regulating PI3K/AKT Signaling Pathway].
Analysis of a family with mitochondrial trifunctional protein deficiency caused by HADHA gene mutations.
Title: Analysis of a family with mitochondrial trifunctional protein deficiency caused by HADHA gene mutations.
Roles of hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha, a lipid metabolism enzyme, in Wilms tumor patients.
Title: Roles of hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha, a lipid metabolism enzyme, in Wilms tumor patients.
Targeting the mitochondrial trifunctional protein restrains tumor growth in oxidative lung carcinomas.
Title: Targeting the mitochondrial trifunctional protein restrains tumor growth in oxidative lung carcinomas.
Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation.
Title: Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation.
Human Peroxisomal 3-Ketoacyl-CoA Thiolase: Tissue Expression and Metabolic Regulation : Human Peroxisomal Thiolase.
Title: Human Peroxisomal 3-Ketoacyl-CoA Thiolase: Tissue Expression and Metabolic Regulation : Human Peroxisomal Thiolase.

Submit: New GeneRIF Correction See all GeneRIFs (45)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency MedGen: C3711645 OMIM: 609016 GeneReviews: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency	Compare labs
Mitochondrial trifunctional protein deficiency 1 MedGen: CN376812 OMIM: 609015 GeneReviews: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	HIV-1 Vif interacts with HADHA	PubMed
Vpr	vpr	A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of trifunctional protein, alpha subunit (HADHA) expression by HIV-1 Vpr in Vpr transduced macrophages	PubMed
Vpu	vpu	HIV-1 Vpu is identified to have a physical interaction with hydroxyacyl-CoA dehydrogenase alpha subunit (HADHA) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G19975 (e-PCR)
- UniSTS:55554

RH1478 (e-PCR)
- UniSTS:44567

A002C23 (e-PCR)
- UniSTS:35609

RH47828 (e-PCR)
- UniSTS:33830

RH103795 (e-PCR)
- UniSTS:98120

D2S158 (e-PCR), detects polymorphism
- UniSTS:29799

D2S1548E (e-PCR)
- UniSTS:150633

SHGC-34066 (e-PCR)
- UniSTS:39530

GDB:451574 (e-PCR)
- UniSTS:157315

RH17550 (e-PCR)
- UniSTS:87432

D12S1229E (e-PCR)
- UniSTS:151476

SHGC-31508 (e-PCR)
- UniSTS:49865

SHGC-945 (e-PCR)
- UniSTS:85972

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3-hydroxyacyl-CoA dehydratase activity	IEA Inferred from Electronic Annotation more info
enables 3-hydroxyacyl-CoA dehydrogenase activity	TAS Traceable Author Statement more info	PubMed
enables NAD+ binding	IEA Inferred from Electronic Annotation more info
enables acetyl-CoA C-acetyltransferase activity	TAS Traceable Author Statement more info	PubMed
enables enoyl-CoA hydratase activity	IBA Inferred from Biological aspect of Ancestor more info
enables fatty-acyl-CoA binding	IEA Inferred from Electronic Annotation more info
enables long-chain-3-hydroxyacyl-CoA dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cardiolipin acyl-chain remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in fatty acid beta-oxidation	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid beta-oxidation	IDA Inferred from Direct Assay more info	PubMed
involved_in fatty acid beta-oxidation	IEA Inferred from Electronic Annotation more info
involved_in response to insulin	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of mitochondrial fatty acid beta-oxidation multienzyme complex	IBA Inferred from Biological aspect of Ancestor more info
part_of mitochondrial fatty acid beta-oxidation multienzyme complex	IPI Inferred from Physical Interaction more info	PubMed
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrial nucleoid	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: trifunctional enzyme subunit alpha, mitochondrial

Names: 3-ketoacyl-Coenzyme A (CoA) thiolase, alpha subunit; 3-oxoacyl-CoA thiolase; 78 kDa gastrin-binding protein; gastrin-binding protein; hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit; hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit; long-chain 2-enoyl-CoA hydratase; long-chain-3-hydroxyacyl-CoA dehydrogenase; mitochondrial long-chain 2-enoyl-Coenzyme A (CoA) hydratase, alpha subunit; mitochondrial long-chain L-3-hydroxyacyl-Coenzyme A (CoA) dehydrogenase, alpha subunit; mitochondrial trifunctional enzyme, alpha subunit; mitochondrial trifunctional protein, alpha subunit; monolysocardiolipin acyltransferase

NP_000173.2

EC 1.1.1.211

EC 4.2.1.17

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.