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Aliases for EHHADH Gene

Aliases for EHHADH Gene

  • Enoyl-CoA, Hydratase/3-Hydroxyacyl CoA Dehydrogenase 2 3 5
  • Enoyl-Coenzyme A, Hydratase/3-Hydroxyacyl Coenzyme A Dehydrogenase 2 3
  • ECHD 3 4
  • PBFE 3 4
  • PBE 3 4
  • L-Bifunctional Protein, Peroxisomal 3
  • L-3-Hydroxyacyl-CoA Dehydrogenase 3
  • Peroxisomal Enoyl-CoA Hydratase 3
  • 3,2-Trans-Enoyl-CoA Isomerase 3
  • FRTS3 3
  • L-PBE 3
  • LBFP 3
  • LBP 3

External Ids for EHHADH Gene

Previous HGNC Symbols for EHHADH Gene

  • ECHD

Previous GeneCards Identifiers for EHHADH Gene

  • GC03M181831
  • GC03M186092
  • GC03M186310
  • GC03M186229
  • GC03M186391
  • GC03M184908
  • GC03M182318

Summaries for EHHADH Gene

Entrez Gene Summary for EHHADH Gene

  • The protein encoded by this gene is a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation pathway. The N-terminal region of the encoded protein contains enoyl-CoA hydratase activity while the C-terminal region contains 3-hydroxyacyl-CoA dehydrogenase activity. Defects in this gene are a cause of peroxisomal disorders such as Zellweger syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

GeneCards Summary for EHHADH Gene

EHHADH (Enoyl-CoA, Hydratase/3-Hydroxyacyl CoA Dehydrogenase) is a Protein Coding gene. Diseases associated with EHHADH include Fanconi Renotubular Syndrome 3 and Primary Fanconi Syndrome. Among its related pathways are Mitochondrial LC-Fatty Acid Beta-Oxidation and Carbon metabolism. GO annotations related to this gene include receptor binding and oxidoreductase activity. An important paralog of this gene is HADHA.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EHHADH Gene

Genomics for EHHADH Gene

Regulatory Elements for EHHADH Gene

Enhancers for EHHADH Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around EHHADH on UCSC Golden Path with GeneCards custom track

Promoters for EHHADH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EHHADH on UCSC Golden Path with GeneCards custom track

Genomic Location for EHHADH Gene

185,190,624 bp from pter
185,282,886 bp from pter
92,263 bases
Minus strand

Genomic View for EHHADH Gene

Genes around EHHADH on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for EHHADH Gene

Proteins for EHHADH Gene

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

    Protein Symbol:
    Recommended name:
    Peroxisomal bifunctional enzyme
    Protein Accession:
    Secondary Accessions:
    • A8K6Y3
    • B4DWG3
    • D3DNU0
    • Q58EZ5

    Protein attributes for EHHADH Gene

    723 amino acids
    Molecular mass:
    79495 Da
    Quaternary structure:
    • Monomer.
    • Absent in patients suffering with peroxisomal disorders such as Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease.

    Alternative splice isoforms for EHHADH Gene


neXtProt entry for EHHADH Gene

Proteomics data for EHHADH Gene at MOPED

Post-translational modifications for EHHADH Gene

  • Acetylated, leading to enhanced enzyme activity. Acetylation is enhanced by up to 80% after treatment either with trichostin A (TSA) or with nicotinamide (NAM) with highest increase on Lys-346. Acetylation and enzyme activity increased by about 1.5% on addition of fatty acids.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EHHADH Gene

No data available for DME Specific Peptides for EHHADH Gene

Domains & Families for EHHADH Gene

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 C-terminal section; belongs to the 3-hydroxyacyl-CoA dehydrogenase family.
genes like me logo Genes that share domains with EHHADH: view

No data available for Gene Families for EHHADH Gene

Function for EHHADH Gene

Molecular function for EHHADH Gene

GENATLAS Biochemistry:
peroxisomal bifunctional enzyme (matrix),including enoyl-CoA hydratase (3-hydroxyacyl-CoA-dehydratase) and 3-hydroxyacyl-CoA dehydrogenase,catalyzing the second and third step of peroxisomal fatty acid beta-oxidation of very long chain fatty acids,branched chain FA and bile intermediates
UniProtKB/Swiss-Prot CatalyticActivity:
(3S)-3-hydroxyacyl-CoA = trans-2(or 3)-enoyl-CoA + H(2)O.
UniProtKB/Swiss-Prot CatalyticActivity:
(3Z)-dodec-3-enoyl-CoA = (2E)-dodec-2-enoyl-CoA.
UniProtKB/Swiss-Prot CatalyticActivity:
(S)-3-hydroxyacyl-CoA + NAD(+) = 3-oxoacyl-CoA + NADH.
UniProtKB/Swiss-Prot EnzymeRegulation:
Enzyme activity enhanced by acetylation.

Gene Ontology (GO) - Molecular Function for EHHADH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003857 3-hydroxyacyl-CoA dehydrogenase activity IEA,TAS --
GO:0004300 enoyl-CoA hydratase activity NAS 8188243
GO:0005102 receptor binding IPI 20178365
GO:0005515 protein binding IPI 25416956
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with EHHADH: view
genes like me logo Genes that share phenotypes with EHHADH: view

Human Phenotype Ontology for EHHADH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EHHADH Gene

MGI Knock Outs for EHHADH:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for EHHADH Gene

Localization for EHHADH Gene

Subcellular locations from UniProtKB/Swiss-Prot for EHHADH Gene


Subcellular locations from

Jensen Localization Image for EHHADH Gene COMPARTMENTS Subcellular localization image for EHHADH gene
Compartment Confidence
cytoskeleton 5
peroxisome 5
mitochondrion 4
cytosol 3
nucleus 2

No data available for Gene Ontology (GO) - Cellular Components for EHHADH Gene

Pathways & Interactions for EHHADH Gene

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

UniProtKB/Swiss-Prot Q08426-ECHP_HUMAN

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

Gene Ontology (GO) - Biological Process for EHHADH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006635 fatty acid beta-oxidation NAS 8188243
GO:0008152 metabolic process IEA --
GO:0044255 cellular lipid metabolic process TAS --
genes like me logo Genes that share ontologies with EHHADH: view

No data available for SIGNOR curated interactions for EHHADH Gene

Drugs & Compounds for EHHADH Gene

(8) Drugs for EHHADH Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acetoacetyl-CoA Experimental Pharma 0
Methacrylyl-CoA Experimental Pharma 0
NADH Nutra Target 0
NAD Pharma Full agonist, Agonist 0

(53) Additional Compounds for EHHADH 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
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
  • (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-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • Trans-tetra-dec-2-enoyl-Coenzyme A
genes like me logo Genes that share compounds with EHHADH: view

Transcripts for EHHADH Gene

Unigene Clusters for EHHADH Gene

Enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase:
Representative Sequences:

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

No ASD Table

Relevant External Links for EHHADH Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EHHADH Gene

mRNA expression in normal human tissues for EHHADH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (x22.4) and Kidney - Cortex (x6.4).

Protein differential expression in normal tissues from HIPED for EHHADH Gene

This gene is overexpressed in Liver (37.1) and Kidney (16.0).

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

SOURCE GeneReport for Unigene cluster for EHHADH Gene Hs.429879

mRNA Expression by UniProt/SwissProt for EHHADH Gene

Tissue specificity: Liver and kidney. Strongly expressed in the terminal segments of the proximal tubule. Lower amounts seen in the brain.
genes like me logo Genes that share expression patterns with EHHADH: view

Primer Products

No data available for Protein tissue co-expression partners for EHHADH Gene

Orthologs for EHHADH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EHHADH Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia EHHADH 35
  • 85.71 (n)
  • 82.99 (a)
  • 83 (a)
(Canis familiaris)
Mammalia EHHADH 35
  • 88.06 (n)
  • 86.03 (a)
  • 86 (a)
(Mus musculus)
Mammalia Ehhadh 35
  • 80.73 (n)
  • 78.27 (a)
Ehhadh 16
Ehhadh 36
  • 78 (a)
(Pan troglodytes)
Mammalia EHHADH 35
  • 99.54 (n)
  • 99.31 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Ehhadh 35
  • 79.96 (n)
  • 77.84 (a)
(Monodelphis domestica)
Mammalia EHHADH 36
  • 64 (a)
(Ornithorhynchus anatinus)
Mammalia EHHADH 36
  • 74 (a)
(Gallus gallus)
Aves EHHADH 35
  • 66.67 (n)
  • 63.21 (a)
  • 63 (a)
(Anolis carolinensis)
Reptilia EHHADH 36
  • 60 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ehhadh 35
  • 58.88 (n)
  • 54.36 (a)
(Danio rerio)
Actinopterygii ehhadh 35
  • 57.38 (n)
  • 55.15 (a)
ehhadh 36
  • 55 (a)
(Caenorhabditis elegans)
Secernentea F01G10.2 37
  • 29 (a)
F01G10.3 37
  • 32 (a)
ech-8 36
  • 30 (a)
ech-9 36
  • 32 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AIM1 35
  • 46.52 (n)
  • 37.31 (a)
(Oryza sativa)
Liliopsida Os02g0274100 35
  • 47.15 (n)
  • 36.4 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
-- 36
  • 46 (a)
Species with no ortholog for EHHADH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 EHHADH Gene

Gene Tree for EHHADH (if available)
Gene Tree for EHHADH (if available)

Paralogs for EHHADH Gene

Paralogs for EHHADH Gene

(2) SIMAP similar genes for EHHADH Gene using alignment to 3 proteins:

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

Variants for EHHADH Gene

Sequence variations from dbSNP and Humsavar for EHHADH Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1062553 - 185,235,417(-) CCTTA(C/T)ACTGG reference, missense, utr-variant-5-prime
rs2302819 - 185,204,506(-) TCTTC(A/G)CTGAA reference, missense
rs1042438 - 185,192,582(-) GAAAA(A/C)CCCAT reference, missense
VAR_047135 -
VAR_047136 -

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

Variant ID Type Subtype PubMed ID
nsv829817 CNV Gain 17160897
esv2603028 CNV Deletion 19546169
esv2726321 CNV Deletion 23290073
esv2726322 CNV Deletion 23290073
esv1781161 CNV Deletion 17803354
esv2726323 CNV Deletion 23290073
esv2726324 CNV Deletion 23290073
esv2389688 CNV Deletion 18987734
esv1007727 CNV Deletion 20482838
esv1439528 CNV Deletion 17803354

Variation tolerance for EHHADH Gene

Residual Variation Intolerance Score: 98.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.29; 90.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EHHADH Gene

Human Gene Mutation Database (HGMD)

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

Disorders for EHHADH Gene

MalaCards: The human disease database

(11) MalaCards diseases for EHHADH Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fanconi renotubular syndrome 3
  • frts3
primary fanconi syndrome
  • primary fanconi renotubular syndrome
d-bifunctional protein deficiency
  • 17-beta-hydroxysteroid dehydrogenase iv deficiency
bifunctional enzyme deficiency
  • d-bifunctional protein deficiency
3-methylglutaconic aciduria, type i
  • 3-methylglutaconyl-coa hydratase deficiency
- elite association - COSMIC cancer census association via MalaCards


  • Fanconi renotubular syndrome 3 (FRTS3) [MIM:615605]: A disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. {ECO:0000269 PubMed:24401050}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for EHHADH

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with EHHADH: view

No data available for Genatlas for EHHADH Gene

Publications for EHHADH Gene

  1. cDNA cloning of the human peroxisomal enoyl-CoA hydratase: 3- hydroxyacyl-CoA dehydrogenase bifunctional enzyme and localization to chromosome 3q26.3-3q28: a free left Alu Arm is inserted in the 3' noncoding region. (PMID: 8188243) Hoefler G. … Chen G.L. (Genomics 1994) 2 3 4 23 67
  2. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  3. Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome. (PMID: 24401050) Klootwijk E.D. … Kleta R. (N. Engl. J. Med. 2014) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. Genome-wide association study of major depressive disorder: new results, meta-analysis, and lessons learned. (PMID: 21042317) Wray N.R. … Sullivan P.F. (Mol. Psychiatry 2012) 3

Products for EHHADH Gene

Sources for EHHADH Gene