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Aliases for HADHA Gene

Aliases for HADHA Gene

  • Hydroxyacyl-CoA Dehydrogenase/3-Ketoacyl-CoA Thiolase/Enoyl-CoA Hydratase (Trifunctional Protein), Alpha Subunit 2 3
  • Hydroxyacyl-Coenzyme A Dehydrogenase/3-Ketoacyl-Coenzyme A Thiolase/Enoyl-Coenzyme A Hydratase (Trifunctional Protein), Alpha Subunit 2 3
  • Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase 2 3
  • Long-Chain 2-Enoyl-CoA Hydratase 2 3
  • 78 KDa Gastrin-Binding Protein 3 4
  • Gastrin-Binding Protein 2 3
  • TP-ALPHA 3 4
  • MTPA 3 6
  • HADH 3 4
  • Mitochondrial Long-Chain L-3-Hydroxyacyl-Coenzyme A (CoA) Dehydrogenase, Alpha Subunit 3
  • Mitochondrial Long-Chain 2-Enoyl-Coenzyme A (CoA) Hydratase, Alpha Subunit 3
  • 3-Ketoacyl-Coenzyme A (CoA) Thiolase, Alpha Subunit 3
  • Mitochondrial Trifunctional Protein, Alpha Subunit 3
  • Mitochondrial Trifunctional Enzyme, Alpha Subunit 3
  • Trifunctional Enzyme Subunit Alpha, Mitochondrial 3
  • Mitochondrial Trifunctional Protein 2
  • 3-Oxoacyl-CoA Thiolase 3
  • Alpha Subunit 2
  • LCHAD 3
  • ECHA 3
  • LCEH 3
  • GBP 3

External Ids for HADHA Gene

Summaries for HADHA Gene

Entrez Gene Summary for HADHA Gene

  • 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]

GeneCards Summary for HADHA Gene

HADHA (Hydroxyacyl-CoA Dehydrogenase/3-Ketoacyl-CoA Thiolase/Enoyl-CoA Hydratase (Trifunctional Protein), Alpha Subunit) is a Protein Coding gene. Diseases associated with HADHA include lchad deficiency and hellp syndrome. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include protein complex binding and fatty-acyl-CoA binding. An important paralog of this gene is EHHADH.

UniProtKB/Swiss-Prot for HADHA Gene

  • Bifunctional subunit

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HADHA Gene

Genomics for HADHA Gene

Genomic Location for HADHA Gene

26,190,635 bp from pter
26,244,726 bp from pter
54,092 bases
Minus strand

Genomic View for HADHA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HADHA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HADHA Gene

Regulatory Elements for HADHA Gene

Proteins for HADHA Gene

  • Protein details for HADHA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Trifunctional enzyme subunit alpha, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B2R7L4
    • B4DYP2
    • Q16679
    • Q53T69
    • Q53TA2
    • Q96GT7
    • Q9UQC5

    Protein attributes for HADHA Gene

    763 amino acids
    Molecular mass:
    83000 Da
    Quaternary structure:
    • Octamer of 4 alpha (HADHA) and 4 beta (HADHB) subunits.

    Alternative splice isoforms for HADHA Gene


neXtProt entry for HADHA Gene

Proteomics data for HADHA Gene at MOPED

Post-translational modifications for HADHA Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys303

Other Protein References for HADHA Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for HADHA Gene

Domains for HADHA Gene


  • In the N-terminal section; belongs to the enoyl-CoA hydratase/isomerase family.:
    • P40939
  • In the central section; belongs to the 3-hydroxyacyl-CoA dehydrogenase family.:
    • P40939
genes like me logo Genes that share domains with HADHA: view

No data available for Gene Families for HADHA Gene

Function for HADHA Gene

Molecular function for HADHA Gene

GENATLAS Biochemistry: mitochondrial,membrane bound,fatty acid beta-oxidation trifunctional enzyme,alpha subunit harboring the long chain 2-enoyl-CoA hydratase and the long chain 3-hydroxyacyl-CoA dehydrogenase domains,linked to HADHB in head to head arrangement on opposite strand with a common 350bp flanking region
UniProtKB/Swiss-Prot CatalyticActivity: (3S)-3-hydroxyacyl-CoA = trans-2(or 3)-enoyl-CoA + H(2)O
UniProtKB/Swiss-Prot CatalyticActivity: A long-chain (S)-3-hydroxyacyl-CoA + NAD(+) = a long-chain 3-oxoacyl-CoA + NADH
UniProtKB/Swiss-Prot Function: Bifunctional subunit

Gene Ontology (GO) - Molecular Function for HADHA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000062 fatty-acyl-CoA binding IEA --
GO:0003824 catalytic activity --
GO:0003857 3-hydroxyacyl-CoA dehydrogenase activity TAS 8135828
GO:0003985 acetyl-CoA C-acetyltransferase activity TAS 8135828
GO:0003988 acetyl-CoA C-acyltransferase activity --
genes like me logo Genes that share ontologies with HADHA: view
genes like me logo Genes that share phenotypes with HADHA: view

Animal Models for HADHA Gene

MGI Knock Outs for HADHA:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for HADHA Gene

Localization for HADHA Gene

Subcellular locations from UniProtKB/Swiss-Prot for HADHA Gene


Subcellular locations from

Jensen Localization Image for HADHA Gene COMPARTMENTS Subcellular localization image for HADHA gene
Compartment Confidence
mitochondrion 5
nucleus 4
cytosol 3
peroxisome 2
plasma membrane 2
extracellular 1

Gene Ontology (GO) - Cellular Components for HADHA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0016507 mitochondrial fatty acid beta-oxidation multienzyme complex IEA --
GO:0042645 mitochondrial nucleoid IDA 18063578
genes like me logo Genes that share ontologies with HADHA: view

Pathways for HADHA Gene

genes like me logo Genes that share pathways with HADHA: view

UniProtKB/Swiss-Prot P40939-ECHA_HUMAN

  • Pathway: Lipid metabolism; fatty acid beta-oxidation

Gene Ontology (GO) - Biological Process for HADHA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006631 fatty acid metabolic process --
GO:0006635 fatty acid beta-oxidation TAS --
GO:0006644 phospholipid metabolic process TAS --
GO:0008152 metabolic process --
GO:0032868 response to insulin IEA --
genes like me logo Genes that share ontologies with HADHA: view

Compounds for HADHA Gene

(71) HMDB Compounds for HADHA Gene

Compound Synonyms Cas Number PubMed IDs
  • (E)-S-2-decenoate Coenzyme A
  • 2-trans-Dodecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • (E)-S-2-octenoate Coenzyme A
  • (2E)-Tetradecenoyl-Coenzyme A

(1) Drugbank Compounds for HADHA Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
  • beta-DPNH
606-68-8 target

(44) Novoseek inferred chemical compound relationships for HADHA Gene

Compound -log(P) Hits PubMed IDs
i-bop 82.3 3
3-ketopalmitoyl-coa 82.2 1
17-phenyl-trinor-pge2 78.7 4
thromboxane a2 78.5 21
gastrin 17 77.6 2
genes like me logo Genes that share compounds with HADHA: view

Transcripts for HADHA Gene

mRNA/cDNA for HADHA Gene

Unigene Clusters for HADHA Gene

Hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HADHA Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b
SP1: -

Relevant External Links for HADHA Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HADHA Gene

mRNA expression in normal human tissues for HADHA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HADHA Gene

This gene is overexpressed in Muscle - Skeletal (5.3) and Heart - Left Ventricle (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HADHA Gene

SOURCE GeneReport for Unigene cluster for HADHA Gene Hs.516032

genes like me logo Genes that share expressions with HADHA: view

Orthologs for HADHA Gene

This gene was present in the common ancestor of animals.

Orthologs for HADHA Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia HADHA 36
  • 99.65 (n)
  • 99.87 (a)
  • 100 (a)
(Bos Taurus)
Mammalia HADHA 36
  • 88.02 (n)
  • 87.7 (a)
  • 88 (a)
(Canis familiaris)
Mammalia HADHA 36
  • 89.63 (n)
  • 89.76 (a)
  • 90 (a)
(Mus musculus)
Mammalia Hadha 36
  • 85.54 (n)
  • 86.5 (a)
Hadha 16
Hadha 37
  • 87 (a)
(Monodelphis domestica)
Mammalia HADHA 37
  • 81 (a)
(Ornithorhynchus anatinus)
Mammalia HADHA 37
  • 86 (a)
(Rattus norvegicus)
Mammalia Hadha 36
  • 84.4 (n)
  • 85.19 (a)
(Gallus gallus)
Aves HADHA 36
  • 73.72 (n)
  • 77.92 (a)
  • 75 (a)
(Anolis carolinensis)
Reptilia HADHA 37
  • 78 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.25552 36
tropical clawed frog
(Silurana tropicalis)
Amphibia hadha 36
  • 71.93 (n)
  • 77.63 (a)
MGC76057 36
(Danio rerio)
Actinopterygii hadhaa 37
  • 71 (a)
hadhab 36
  • 68.06 (n)
  • 72.35 (a)
hadhab 37
  • 72 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007784 36
  • 57.4 (n)
  • 57.26 (a)
fruit fly
(Drosophila melanogaster)
Insecta Mtpalpha 36
  • 58.46 (n)
  • 57.28 (a)
Mtpalpha 37
  • 55 (a)
BcDNA:GH12558 38
  • 56 (a)
(Caenorhabditis elegans)
Secernentea ech-1 37
  • 50 (a)
T08B2.7 36
  • 56.75 (n)
  • 54.02 (a)
T08B2.7 37
  • 51 (a)
T08B2.7c 38
  • 51 (a)
T08B2.7a 38
  • 53 (a)
F01G10.2 38
  • 27 (a)
T08B2.7b 38
  • 53 (a)
C29F3.1 38
  • 51 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4868 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8212 37
  • 57 (a)
Species with no ortholog for HADHA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HADHA Gene

Gene Tree for HADHA (if available)
Gene Tree for HADHA (if available)

Paralogs for HADHA Gene

Paralogs for HADHA Gene

Selected SIMAP similar genes for HADHA Gene using alignment to 4 proteins: Pseudogenes for HADHA Gene

genes like me logo Genes that share paralogs with HADHA: view

Variants for HADHA Gene

Sequence variations from dbSNP and Humsavar for HADHA Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs7260 -- 26,191,048(-) TTCCT(A/C/G)TTGGA utr-variant-3-prime
rs12291 -- 26,191,155(-) GTAAC(G/T)AGAAG utr-variant-3-prime
rs15216 -- 26,191,030(-) GCCCA(A/C)TGCTC utr-variant-3-prime
rs962217 -- 26,215,407(-) TGGAA(A/G)CCAAA intron-variant
rs1046674 -- 26,214,765(+) GTACA(C/T)GAGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HADHA Gene

Variant ID Type Subtype PubMed ID
esv33316 CNV Loss 17666407
nsv873747 CNV Gain 21882294
nsv524918 CNV Gain 19592680
nsv873748 CNV Loss 21882294
nsv2648 CNV Loss 18451855

Relevant External Links for HADHA Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

Disorders for HADHA Gene

(2) OMIM Diseases for HADHA Gene (600890)


  • Trifunctional protein deficiency (TFP deficiency) [MIM:609015]: The clinical manifestations are very variable and include hypoglycemia, cardiomyopathy and sudden death. Phenotypes with mainly hepatic and neuromyopathic involvement can also be distinguished. Biochemically, TFP deficiency is defined by the loss of all three enzyme activities of the TFP complex. {ECO:0000269 PubMed:9739053}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency) [MIM:609016]: The clinical features are very similar to TFP deficiency. Biochemically, LCHAD deficiency is characterized by reduced long-chain 3-hydroxyl-CoA dehydrogenase activity, while the other enzyme activities of the TFP complex are normal or only slightly reduced. {ECO:0000269 PubMed:7811722, ECO:0000269 PubMed:9266371}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Maternal acute fatty liver of pregnancy (AFLP) [MIM:609016]: Severe maternal illness occurring during pregnancies with affected fetuses. This disease is associated with LCHAD deficiency and characterized by sudden unexplained infant death or hypoglycemia and abnormal liver enzymes (Reye-like syndrome). {ECO:0000269 PubMed:7846063}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for HADHA Gene

(36) Novoseek inferred disease relationships for HADHA Gene

Disease -log(P) Hits PubMed IDs
reye-like syndrome 86.8 3
protein deficiency 83.9 7
abetalipoproteinemia 82.9 13
hellp syndrome 74.7 13
fatty liver 72.8 13

Relevant External Links for HADHA

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with HADHA: view

Publications for HADHA Gene

  1. Structures of the human cDNA and gene encoding the 78 kDa gastrin- binding protein and of a related pseudogene. (PMID: 7918661) Zhang Q.X. … Baldwin G.S. (Biochim. Biophys. Acta 1994) 2 3 4 23
  2. Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein. (PMID: 7811722) Ijlst L. … Hashimoto T. (Biochim. Biophys. Acta 1994) 3 4 23
  3. The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy. (PMID: 7846063) Sims H.F. … Strauss A.W. (Proc. Natl. Acad. Sci. U.S.A. 1995) 3 4 23
  4. Fluorescence in situ hybridization mapping of the alpha and beta subunits (HADHA and HADHB) of human mitochondrial fatty acid beta-oxidation multienzyme complex to 2p23 and their evolution. (PMID: 9605857) Aoyama T. … Fukushima Y. (Cytogenet. Cell Genet. 1997) 2 3 23
  5. Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene. (PMID: 8770876) Ijlst L. … Wanders R.J.A. (J. Clin. Invest. 1996) 3 4 23

Products for HADHA Gene

Sources for HADHA Gene

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