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Aliases for HADH Gene

Aliases for HADH Gene

  • Hydroxyacyl-CoA Dehydrogenase 2 3 5
  • Medium And Short-Chain L-3-Hydroxyacyl-Coenzyme A Dehydrogenase 3 4
  • L-3-Hydroxyacyl-Coenzyme A Dehydrogenase, Short Chain 2 3
  • Short-Chain 3-Hydroxyacyl-CoA Dehydrogenase 3 4
  • HADHSC 3 4
  • SCHAD 3 4
  • HCDH 3 4
  • HAD 3 4
  • Hydroxyacyl-Coenzyme A Dehydrogenase, Mitochondrial 3
  • Testis Secretory Sperm-Binding Protein Li 203a 3
  • Hydroxyacyl-Coenzyme A Dehydrogenase 2
  • EC 4
  • MSCHAD 3
  • HADH1 3
  • HHF4 3

External Ids for HADH Gene

Previous HGNC Symbols for HADH Gene


Previous GeneCards Identifiers for HADH Gene

  • GC07U990046
  • GC04P109130
  • GC04P108910
  • GC04P104642

Summaries for HADH Gene

Entrez Gene Summary for HADH Gene

  • This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene of this gene on chromosome 15. [provided by RefSeq, May 2010]

GeneCards Summary for HADH Gene

HADH (Hydroxyacyl-CoA Dehydrogenase) is a Protein Coding gene. Diseases associated with HADH include 3-Hydroxyacyl-Coa Dehydrogenase Deficiency and Hyperinsulinemic Hypoglycemia, Familial, 4. Among its related pathways are Mitochondrial Fatty Acid Beta-Oxidation and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and NAD binding. An important paralog of this gene is HADHA.

UniProtKB/Swiss-Prot for HADH Gene

  • Plays an essential role in the mitochondrial beta-oxidation of short chain fatty acids. Exerts it highest activity toward 3-hydroxybutyryl-CoA.

Gene Wiki entry for HADH Gene

Additional gene information for HADH Gene

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

Genomics for HADH Gene

GeneHancer (GH) Regulatory Elements for HADH Gene

Promoters and enhancers for HADH 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
GH04J107987 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 662.6 +0.2 193 3.8 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 YY1 POLR2B HADH GC04P107997 GC04M107959
GH04J108035 Enhancer 1 Ensembl ENCODE dbSUPER 21.9 +46.9 46905 2 SRF PKNOX1 MEF2B BATF ZNF121 ATF4 POLR2A CREM RUNX3 GC04M107959 HADH GC04P107997
GH04J108030 Enhancer 0.9 ENCODE dbSUPER 16.9 +41.0 40996 1.9 CTCF CEBPG RAD21 RELA POLR2A ARID2 ZNF157 ZSCAN5C ZNF143 RFX1 HADH LOC101929595 RPL34 RPL34-AS1 GC04M107959 GC04P107997
GH04J108018 Enhancer 0.8 ENCODE dbSUPER 17.5 +29.1 29076 0.2 HDGF CTCF ZNF654 TRIM22 REST ZNF2 RAD21 CC2D1A ARID2 ZNF143 HADH LOC101929595 GC04M107959 GC04P107997
GH04J108008 Enhancer 0.9 ENCODE dbSUPER 12.2 +19.2 19220 1.2 FOXA2 MAX CEBPG RAD21 YY1 TRIM24 RXRA BHLHE40 CEBPB REST HADH LOC101929595 RPL34 RPL34-AS1 GC04P107997 GC04M107959
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HADH on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HADH gene promoter:
  • C/EBPalpha
  • c-Myb
  • p300
  • YY1
  • SREBP-1a
  • SREBP-1b

Genomic Locations for HADH Gene

Genomic Locations for HADH Gene
45,462 bases
Plus strand
45,462 bases
Plus strand

Genomic View for HADH Gene

Genes around HADH on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for HADH Gene

Proteins for HADH Gene

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

    Protein Symbol:
    Recommended name:
    Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • J3KQ17
    • O00324
    • O00397
    • O00753
    • Q4W5B4

    Protein attributes for HADH Gene

    314 amino acids
    Molecular mass:
    34294 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for HADH Gene

    Alternative splice isoforms for HADH Gene


neXtProt entry for HADH Gene

Post-translational modifications for HADH Gene

  • Succinylation at Lys-81, adjacent to a coenzyme A binding site. Desuccinylated by SIRT5 (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HADH Gene

Domains & Families for HADH Gene

Gene Families for HADH Gene

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

Suggested Antigen Peptide Sequences for HADH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the 3-hydroxyacyl-CoA dehydrogenase family.
  • Belongs to the 3-hydroxyacyl-CoA dehydrogenase family.
genes like me logo Genes that share domains with HADH: view

Function for HADH Gene

Molecular function for HADH Gene

UniProtKB/Swiss-Prot Function:
Plays an essential role in the mitochondrial beta-oxidation of short chain fatty acids. Exerts it highest activity toward 3-hydroxybutyryl-CoA.
UniProtKB/Swiss-Prot CatalyticActivity:
(S)-3-hydroxyacyl-CoA + NAD(+) = 3-oxoacyl-CoA + NADH.

Enzyme Numbers (IUBMB) for HADH Gene

Phenotypes From GWAS Catalog for HADH Gene

Gene Ontology (GO) - Molecular Function for HADH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003857 3-hydroxyacyl-CoA dehydrogenase activity TAS --
GO:0016491 oxidoreductase activity IEA --
GO:0070403 NAD+ binding IEA --
genes like me logo Genes that share ontologies with HADH: view
genes like me logo Genes that share phenotypes with HADH: view

Human Phenotype Ontology for HADH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HADH Gene

MGI Knock Outs for HADH:
  • Hadh Hadh<tm1Csta>

Animal Model Products

  • Taconic Biosciences Mouse Models for HADH

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for HADH Gene

Localization for HADH Gene

Subcellular locations from UniProtKB/Swiss-Prot for HADH Gene

Mitochondrion matrix.

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 HADH gene
Compartment Confidence
mitochondrion 5
nucleus 5
peroxisome 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HADH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion TAS,IDA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with HADH: view

Pathways & Interactions for HADH Gene

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

UniProtKB/Swiss-Prot Q16836-HCDH_HUMAN

  • Pathway: Lipid metabolism; fatty acid beta-oxidation.

Gene Ontology (GO) - Biological Process for HADH 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:0009725 response to hormone IEA --
GO:0014823 response to activity IEA --
genes like me logo Genes that share ontologies with HADH: view

No data available for SIGNOR curated interactions for HADH Gene

Drugs & Compounds for HADH Gene

(16) Drugs for HADH Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Omega-3-carboxylic acids Approved, Investigational Pharma Target, potentiator 0
Gimeracil Approved Pharma Dihydropyrimidine dehydrogenase inhibitor 0
Mycophenolate mofetil Approved, Investigational Pharma IMPDH inhibitor 987
Stiripentol Approved Pharma An LDH inhibitor 9

(28) Additional Compounds for HADH Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (3S)-3-Hydroxyadipyl-coenzyme A
  • (S)-3-Hydroxydodecanoyl-coenzyme A
  • (S)-3-Hydroxylauroyl-CoA
  • (S)-3-Hydroxylauroyl-coenzyme A
  • (S)-3-Hydroxyhexadecanoyl-coenzyme A
  • (S)-3-Hydroxypalmitoyl-coenzyme A
  • b-Hydroxypalmitoyl-CoA
  • b-Hydroxypalmitoyl-coenzyme A
  • beta-Hydroxypalmitoyl-CoA
(S)-3-Hydroxyisobutyric acid
  • (S)-3-Hydroxy-2-methylpropanoic acid
  • (S)-3-Hydroxy-2-methylpropionic acid
  • (S)-3-Hydroxy-2-methylpropanoate
  • (S)-3-Hydroxyisobutyrate
  • (S)-3-Hydroxy-2-methylpropionate
  • (S)-3-Hydroxytetradecanoyl-coa.
  • (S)-3-Hydroxytetradecanoyl-coenzyme A.
genes like me logo Genes that share compounds with HADH: view

Transcripts for HADH Gene

mRNA/cDNA for HADH Gene

Unigene Clusters for HADH Gene

Hydroxyacyl-CoA dehydrogenase:
Representative Sequences:

Clone Products

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

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b
SP1: - - - -
SP2: - - -
SP3: - - - - -
SP4: - -
SP6: -

Relevant External Links for HADH Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HADH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HADH Gene

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

This gene is overexpressed in Heart - Left Ventricle (x4.4).

Protein differential expression in normal tissues from HIPED for HADH Gene

This gene is overexpressed in Liver, secretome (9.9).

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

Protein tissue co-expression partners for HADH Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HADH Gene:


SOURCE GeneReport for Unigene cluster for HADH Gene:


mRNA Expression by UniProt/SwissProt for HADH Gene:

Tissue specificity: Expressed in liver, kidney, pancreas, heart and skeletal muscle.

Evidence on tissue expression from TISSUES for HADH Gene

  • Muscle(4.6)
  • Liver(4.5)
  • Lung(4.2)
  • Nervous system(3.8)
  • Pancreas(3.3)
  • Heart(3.1)
  • Intestine(2.9)
  • Kidney(2.6)
  • Blood(2.2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • skeletal muscle
  • urinary
Head and neck:
  • brain
  • ear
  • head
  • heart
  • heart valve
  • adrenal gland
  • kidney
  • liver
  • pancreas
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with HADH: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for HADH Gene

Orthologs for HADH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HADH Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia HADH 34 33
  • 99.6 (n)
(Bos Taurus)
Mammalia HADH 34 33
  • 88.32 (n)
(Canis familiaris)
Mammalia HADH 34 33
  • 87.36 (n)
(Rattus norvegicus)
Mammalia Hadh 33
  • 85.56 (n)
(Mus musculus)
Mammalia Hadh 16 34 33
  • 84.93 (n)
(Monodelphis domestica)
Mammalia HADH 34
  • 83 (a)
(Ornithorhynchus anatinus)
Mammalia HADH 34
  • 72 (a)
(Gallus gallus)
Aves HADH 34 33
  • 75.93 (n)
(Anolis carolinensis)
Reptilia HADH 34
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia hadh 33
  • 75.23 (n)
Str.7598 33
African clawed frog
(Xenopus laevis)
Amphibia hadhsc-prov 33
(Danio rerio)
Actinopterygii hadh 34 33
  • 69.36 (n)
wufb66a11 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8646 33
(Caenorhabditis elegans)
Secernentea B0272.3 34 33
  • 56.6 (n)
F54C8.1 34
  • 47 (a)
hacd-1 34
  • 44 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G15290 33
  • 48.04 (n)
(Oryza sativa)
Liliopsida Os01g0796400 33
  • 49.64 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2628 34
  • 62 (a)
Cin.1772 33
bread mold
(Neurospora crassa)
Ascomycetes NCU09553 33
  • 52.81 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1772 33
Species where no ortholog for HADH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HADH Gene

Gene Tree for HADH (if available)
Gene Tree for HADH (if available)
Evolutionary constrained regions (ECRs) for HADH: view image

Paralogs for HADH Gene

Paralogs for HADH Gene Pseudogenes for HADH Gene

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

Variants for HADH Gene

Sequence variations from dbSNP and Humsavar for HADH Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs10017687 likely-benign, Hyperinsulinism, Dominant/Recessive, Deficiency of 3-hydroxyacyl-CoA dehydrogenase 107,989,740(+) G/A/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs137853101 pathogenic, Deficiency of 3-hydroxyacyl-CoA dehydrogenase, 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530] 107,990,050(+) G/A coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs137853102 pathogenic, Deficiency of 3-hydroxyacyl-CoA dehydrogenase, 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530] 108,009,797(+) C/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant, synonymous_variant
rs137853103 pathogenic, Hyperinsulinemic hypoglycemia, familial, 4, Familial hyperinsulinemic hypoglycemia 4 (HHF4) [MIM:609975] 108,033,239(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs146036912 likely-pathogenic, Deficiency of 3-hydroxyacyl-CoA dehydrogenase 108,027,727(+) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv2759272 CNV loss 17122850
nsv1003893 CNV gain 25217958

Variation tolerance for HADH Gene

Residual Variation Intolerance Score: 69.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.07; 80.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HADH 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 HADH Gene

Disorders for HADH Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
3-hydroxyacyl-coa dehydrogenase deficiency
  • hadh deficiency
hyperinsulinemic hypoglycemia, familial, 4
  • persistent hyperinsulinemic hypoglycemia of infancy
hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency
  • hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency
3-alpha hydroxyacyl-coa dehydrogenase deficiency
  • 3-hydroxyacyl-coa dehydrogenase deficiency
hyperinsulinemic hypoglycemia
  • nesidioblastosis
- elite association - COSMIC cancer census association via MalaCards
Search HADH in MalaCards View complete list of genes associated with diseases


  • 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]: An autosomal recessive, metabolic disorder with various clinical presentations including hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and in some cases sudden death. {ECO:0000269 Ref.13}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Familial hyperinsulinemic hypoglycemia 4 (HHF4) [MIM:609975]: Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF4 should be easily recognizable by analysis of acylcarnitine species and that this disorder responds well to treatment with diazoxide. It provides the first experiment of nature that links impaired fatty acid oxidation to hyperinsulinism and that provides support for the concept that a lipid signaling pathway is implicated in the control of insulin secretion. {ECO:0000269 PubMed:11489939}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for HADH

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 HADH: view

No data available for Genatlas for HADH Gene

Publications for HADH Gene

  1. 3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease. (PMID: 16176262) Yang SY … Schulz H (The FEBS journal 2005) 2 3 4 22 58
  2. Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. (PMID: 11489939) Clayton PT … van den Berg IE (The Journal of clinical investigation 2001) 3 4 22 58
  3. Biochemical characterization and crystal structure determination of human heart short chain L-3-hydroxyacyl-CoA dehydrogenase provide insights into catalytic mechanism. (PMID: 10231530) Barycki JJ … Banaszak LJ (Biochemistry 1999) 3 4 22 58
  4. Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: cloning and characterization of the coding sequence. (PMID: 8687463) Vredendaal PJ … Berger R (Biochemical and biophysical research communications 1996) 3 4 22 58
  5. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PMID: 20332099) Kalsi G … Riley BP (Human molecular genetics 2010) 3 44 58

Products for HADH Gene

Sources for HADH Gene

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