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Aliases for HADHA Gene

Aliases for HADHA Gene

  • Hydroxyacyl-CoA Dehydrogenase Trifunctional Multienzyme Complex Subunit Alpha 2 3 5
  • Hydroxyacyl-Coenzyme A Dehydrogenase/3-Ketoacyl-Coenzyme A Thiolase/Enoyl-Coenzyme A Hydratase (Trifunctional Protein), Alpha Subunit 2 3
  • Hydroxyacyl-CoA Dehydrogenase/3-Ketoacyl-CoA Thiolase/Enoyl-CoA Hydratase (Trifunctional Protein), Alpha Subunit 2 3
  • Mitochondrial 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
  • 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 Enzyme, Alpha Subunit 3
  • Trifunctional Enzyme Subunit Alpha, Mitochondrial 3
  • 3-Oxoacyl-CoA Thiolase 3
  • TP-ALPHA 3
  • TP-Alpha 4
  • LCHAD 3
  • ECHA 3
  • LCEH 3
  • MTPA 3
  • GBP 3

External Ids for HADHA Gene

Previous GeneCards Identifiers for HADHA Gene

  • GC02M026334
  • GC02M026506
  • GC02M026388
  • GC02M026325
  • GC02M026267
  • GC02M026413
  • GC02M026150

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 Trifunctional Multienzyme Complex Subunit Alpha) is a Protein Coding gene. Diseases associated with HADHA include Mitochondrial Trifunctional Protein Deficiency and Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency. Among its related pathways are Mitochondrial Fatty Acid Beta-Oxidation and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and NAD binding. An important paralog of this gene is EHHADH.

UniProtKB/Swiss-Prot for HADHA Gene

  • Bifunctional subunit.

Additional gene information for HADHA Gene

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

Genomics for HADHA Gene

GeneHancer (GH) Regulatory Elements for HADHA Gene

Promoters and enhancers for HADHA Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J026242 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 662.7 -0.1 -89 5.5 CLOCK DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 PPARGC1A HADHA HADHB CAD TMEM214 DNMT3A ASXL2 ATRAID RPS2P15 GAREM2 LOC105374334
GH02J026298 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 20.3 -55.1 -55121 3.3 HDGF DMAP1 BATF ZNF48 YY1 ZNF335 EGR1 ZNF143 ZFP91 ETV6 LOC105374334 SELENOI HADHB HADHA ADGRF3 ASXL2 ATRAID CAD DRC1 DNMT3A
GH02J027069 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.3 -831.8 -831768 14.9 CLOCK MLX DMAP1 YBX1 IRF4 YY1 SLC30A9 E2F8 ZNF143 MCM3 EMILIN1 OST4 CAD GTF3C2 SNX17 NRBP1 LOC105374363 GPN1 KHK TMEM214
GH02J026292 Enhancer 1 Ensembl ENCODE dbSUPER 23.2 -48.1 -48125 1 MNT RFX5 GATA3 ATF4 ZFHX2 EGR1 IKZF1 FOS EGR2 HADHA HADHB ADGRF3 LOC105374334 GC02P026059
GH02J026763 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.3 -520.1 -520093 2.9 HDGF PKNOX1 SMAD1 ZFP64 ARID4B SIN3A DMAP1 POLR2B ZNF207 SP3 CENPA SLC35F6 EIF2B4 ATRAID CAD LOC105374363 ASXL2 NRBP1 GTF3C2 TMEM214
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HADHA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HADHA gene promoter:
  • STAT5A
  • POU2F1a
  • POU2F1
  • HNF-1A
  • HNF-1
  • AML1a
  • Egr-4
  • GATA-2
  • GR
  • GR-alpha

Regulatory Element Products

Genomic Locations for HADHA Gene

Genomic Locations for HADHA Gene
54,092 bases
Minus strand
54,091 bases
Minus strand

Genomic View for HADHA Gene

Genes around HADHA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HADHA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HADHA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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.
    • Sequence=BAG63804.1; Type=Miscellaneous discrepancy; Note=Wrong choice of frame.; Evidence={ECO:0000305};

    Alternative splice isoforms for HADHA Gene


neXtProt entry for HADHA Gene

Post-translational modifications for HADHA Gene

  • Ubiquitination at isoforms=2303
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HADHA Gene

Domains & Families for HADHA Gene

Gene Families for HADHA Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry



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

Function for HADHA Gene

Molecular function for HADHA Gene

UniProtKB/Swiss-Prot Function:
Bifunctional subunit.
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.
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

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 IEA --
GO:0003857 3-hydroxyacyl-CoA dehydrogenase activity IEA,TAS 8135828
GO:0003985 acetyl-CoA C-acetyltransferase activity TAS 8135828
GO:0003988 acetyl-CoA C-acyltransferase activity IEA --
genes like me logo Genes that share ontologies with HADHA: view
genes like me logo Genes that share phenotypes with HADHA: view

Human Phenotype Ontology for HADHA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HADHA Gene

MGI Knock Outs for HADHA:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HADHA

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for HADHA Gene

Localization for HADHA Gene

Subcellular locations from UniProtKB/Swiss-Prot for HADHA Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HADHA gene
Compartment Confidence
extracellular 5
mitochondrion 5
peroxisome 2
nucleus 2
plasma membrane 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HADHA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,IEA --
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 & Interactions 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:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006635 fatty acid beta-oxidation TAS,IEA --
GO:0008152 metabolic process IEA --
GO:0032868 response to insulin IEA --
genes like me logo Genes that share ontologies with HADHA: view

No data available for SIGNOR curated interactions for HADHA Gene

Drugs & Compounds for HADHA Gene

(28) Drugs for HADHA Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Water Approved Pharma 0
Acetoacetyl-CoA Experimental Pharma 0
Hexanoyl-CoA Experimental Pharma 0
Methacrylyl-CoA Experimental Pharma 0

(85) Additional Compounds for HADHA Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
  • (e)-S-2-Octenoate
  • (e)-S-2-Octenoate CoA
  • (e)-S-2-Octenoate coenzyme A
  • (e)-S-2-Octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
  • (2E)-Tetradecenoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-CoA
  • trans-Tetra-dec-2-enoyl-coa.
  • trans-Tetra-dec-2-enoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-coenzyme A.
genes like me logo Genes that share compounds with HADHA: view

Transcripts for HADHA Gene

mRNA/cDNA for HADHA Gene

(1) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(1063) Selected AceView cDNA sequences:
(11) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HADHA Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HADHA

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for HADHA Gene

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

This gene is overexpressed in Muscle - Skeletal (x5.3) and Heart - Left Ventricle (x4.2).

Protein differential expression in normal tissues from HIPED for HADHA Gene

This gene is overexpressed in Heart (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HADHA Gene

Protein tissue co-expression partners for HADHA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HADHA Gene:


SOURCE GeneReport for Unigene cluster for HADHA Gene:


Evidence on tissue expression from TISSUES for HADHA Gene

  • Nervous system(4.9)
  • Liver(4.8)
  • Intestine(4.3)
  • Lung(4.1)
  • Kidney(4)
  • Skin(4)
  • Muscle(3.7)
  • Blood(3.5)
  • Eye(3.4)
  • Heart(3.4)
  • Pancreas(3.1)
  • Gall bladder(2.4)
  • Adrenal gland(2.1)
  • Stomach(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HADHA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • urinary
Head and neck:
  • brain
  • ear
  • eye
  • head
  • diaphragm
  • heart
  • heart valve
  • lung
  • adrenal gland
  • kidney
  • liver
  • placenta
  • uterus
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with HADHA: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for HADHA Gene

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 34 33
  • 99.65 (n)
(Canis familiaris)
Mammalia HADHA 34 33
  • 89.63 (n)
(Bos Taurus)
Mammalia HADHA 34 33
  • 88.02 (n)
(Ornithorhynchus anatinus)
Mammalia HADHA 34
  • 86 (a)
(Mus musculus)
Mammalia Hadha 16 34 33
  • 85.54 (n)
(Rattus norvegicus)
Mammalia Hadha 33
  • 84.4 (n)
(Monodelphis domestica)
Mammalia HADHA 34
  • 81 (a)
(Gallus gallus)
Aves HADHA 34 33
  • 73.72 (n)
(Anolis carolinensis)
Reptilia HADHA 34
  • 78 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia hadha 33
  • 71.93 (n)
MGC76057 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.25552 33
(Danio rerio)
Actinopterygii hadhaa 34
  • 71 (a)
hadhab 34 33
  • 68.06 (n)
fruit fly
(Drosophila melanogaster)
Insecta Mtpalpha 34 33
  • 58.46 (n)
BcDNA:GH12558 35
  • 56 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007784 33
  • 57.4 (n)
(Caenorhabditis elegans)
Secernentea T08B2.7 34 33
  • 56.75 (n)
T08B2.7a 35
  • 53 (a)
T08B2.7b 35
  • 53 (a)
T08B2.7c 35
  • 51 (a)
C29F3.1 35
  • 51 (a)
ech-1 34
  • 50 (a)
F01G10.2 35
  • 27 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8212 34
  • 57 (a)
Cin.4868 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4868 33
Species where no ortholog for HADHA was found in the sources mined by GeneCards:
  • 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)
Evolutionary constrained regions (ECRs) for HADHA: view image

Paralogs for HADHA Gene

Paralogs for HADHA Gene

(1) SIMAP similar genes for HADHA Gene using alignment to 4 proteins:

  • Q9UQC5_HUMAN 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 Variation AA Info Type
rs1015478070 uncertain-significance, LCHAD Deficiency, Mitochondrial trifunctional protein deficiency 26,190,845(-) G/A 3_prime_UTR_variant
rs1049987 likely-benign, LCHAD Deficiency, Mitochondrial trifunctional protein deficiency 26,190,948(-) C/G/T 3_prime_UTR_variant
rs1057516217 likely-pathogenic, pathogenic, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, not provided 26,193,774(-) T/C splice_acceptor_variant
rs1057516233 likely-pathogenic, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 26,201,321(-) C/G splice_acceptor_variant
rs1057516326 likely-pathogenic, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 26,236,929(-) C/T coding_sequence_variant, stop_gained

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

Variant ID Type Subtype PubMed ID
esv33316 CNV loss 17666407
esv3590113 CNV loss 21293372
nsv2648 CNV deletion 18451855
nsv524918 CNV gain 19592680
nsv961390 CNV duplication 23825009

Variation tolerance for HADHA Gene

Residual Variation Intolerance Score: 12.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.86; 58.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HADHA Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HADHA Gene

Disorders for HADHA Gene

MalaCards: The human disease database

(25) MalaCards diseases for HADHA Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial trifunctional protein deficiency
  • mtpd
long-chain 3-hydroxyacyl-coa dehydrogenase deficiency
  • lchad deficiency
3-hydroxyacyl-coa dehydrogenase deficiency
  • hadh deficiency
hellp syndrome
  • hemolysis, elevated liver enzymes, lowered platelets
kidney cortex necrosis
  • renal cortical necrosis
- elite association - COSMIC cancer census association via MalaCards
Search HADHA in MalaCards View complete list of genes associated with diseases


  • Mitochondrial trifunctional protein deficiency (MTPD) [MIM:609015]: A disease biochemically characterized by loss of all enzyme activities of the mitochondrial trifunctional protein complex. Variable clinical manifestations include hypoglycemia, cardiomyopathy, delayed psychomotor development, sensorimotor axonopathy, generalized weakness, hepatic dysfunction, respiratory failure. Sudden infant death may occur. Most patients die from heart failure. {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.

Additional Disease Information for HADHA

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HADHA: view

No data available for Genatlas for HADHA Gene

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 QX … Baldwin GS (Biochimica et biophysica acta 1994) 2 3 4 22 58
  2. Neither maternal nor fetal mutation (E474Q) in the alpha-subunit of the trifunctional protein is frequent in pregnancies complicated by HELLP syndrome. (PMID: 17313315) Mütze S … Zerres K (Journal of perinatal medicine 2007) 3 22 44 58
  3. 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 (Cytogenetics and cell genetics 1997) 2 3 22 58
  4. 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 RJ (The Journal of clinical investigation 1996) 3 4 22 58
  5. The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy. (PMID: 7846063) Sims HF … Strauss AW (Proceedings of the National Academy of Sciences of the United States of America 1995) 3 4 22 58

Products for HADHA Gene

Sources for HADHA Gene

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