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. ... See more...

Aliases for EHHADH Gene

Aliases for EHHADH Gene

  • Enoyl-CoA Hydratase And 3-Hydroxyacyl CoA Dehydrogenase 2 3 5
  • Enoyl-Coenzyme A, Hydratase/3-Hydroxyacyl Coenzyme A Dehydrogenase 2 3
  • Peroxisomal Bifunctional Enzyme 3 4
  • ECHD 3 4
  • PBFE 3 4
  • PBE 3 4
  • Enoyl-CoA, Hydratase/3-Hydroxyacyl CoA Dehydrogenase 3
  • 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 And 3-Hydroxyacyl CoA Dehydrogenase) is a Protein Coding gene. Diseases associated with EHHADH include Fanconi Renotubular Syndrome 3 and D-Bifunctional Protein Deficiency. Among its related pathways are Mitochondrial LC-Fatty Acid Beta-Oxidation and Valine, leucine and isoleucine degradation. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and oxidoreductase activity. An important paralog of this gene is HADHA.

Additional gene information for EHHADH Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EHHADH Gene

Genomics for EHHADH Gene

GeneHancer (GH) Regulatory Elements for EHHADH Gene

Promoters and enhancers for EHHADH 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
GH03J185282 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 -0.2 -215 2.6 ZBTB40 ZNF217 EP300 POLR2G SP1 NCOR1 PHF8 JUND TEAD4 ZNF639 MAP3K13 EHHADH lnc-EHHADH-1 C3orf70 lnc-EHHADH-2
GH03J185253 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.3 +28.9 28885 1.6 POLR2G NCOR1 GTF2E2 PHF8 ZIC2 POLR2A ZBTB11 TCF7 ZNF423 ZBTB26 MIR5588 EHHADH VPS8 MAP3K13 piR-31951-020 lnc-EHHADH-1
GH03J185280 Enhancer 0.8 ENCODE 500.7 +2.0 1958 0.2 CTCF AFF1 CTBP1 TRIM22 SMC3 CREB1 RAD21 SAP130 ZNF592 ELF1 EHHADH MAGEF1 lnc-EHHADH-1 piR-56186-045
GH03J185325 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.3 -46.6 -46578 7.6 FOXK2 TCF12 POLR2G NCOR1 POLR2A TRIM28 RFX1 ZBTB25 SKI TEAD1 MAP3K13 EHHADH piR-50391-008 lnc-EHHADH-2
GH03J185316 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 11.9 -34.6 -34561 2.3 NCOR1 POLR2A RELA EP300 SKI TEAD1 ATF2 NR2F2 FOXA2 ZNF316 MAP3K13 EHHADH C3orf70 lnc-EHHADH-2 piR-50391-008
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EHHADH on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EHHADH

Top Transcription factor binding sites by QIAGEN in the EHHADH gene promoter:
  • aMEF-2
  • GCNF
  • GCNF-1
  • GCNF-2
  • HSF1 (long)
  • HSF1short
  • MEF-2
  • MEF-2A
  • PPAR-alpha
  • TBP

Genomic Locations for EHHADH Gene

Genomic Locations for EHHADH Gene
92,263 bases
Minus strand
91,367 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

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

Gene Families for EHHADH Gene

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

Protein Domains for EHHADH Gene

  • Enoyl-CoA hydratase/isomerase
  • 3-hydroxyacyl-CoA dehydrogenase
  • 3-hydroxyacyl-CoA dehydrogenase, NAD binding domain

Suggested Antigen Peptide Sequences for EHHADH Gene

GenScript: Design optimal peptide antigens:
  • EHHADH protein (A0PJI6_HUMAN)
  • cDNA FLJ50897, highly similar to Peroxisomal bifunctional enzyme (B4DWG3_HUMAN)
  • Peroxisomal bifunctional enzyme (ECHP_HUMAN)

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

Function for EHHADH Gene

Molecular function for EHHADH Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a (3S)-hydroxyacyl-CoA = a (2E)-enoyl-CoA + H2O; Xref=Rhea:RHEA:16105, ChEBI:CHEBI:15377, ChEBI:CHEBI:57318, ChEBI:CHEBI:58856; EC=;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 4-saturated-(3S)-hydroxyacyl-CoA = a (3E)-enoyl-CoA + H2O; Xref=Rhea:RHEA:20724, ChEBI:CHEBI:15377, ChEBI:CHEBI:58521, ChEBI:CHEBI:137480; EC=;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a (3Z)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA; Xref=Rhea:RHEA:45900, ChEBI:CHEBI:85097, ChEBI:CHEBI:85489; EC=;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a (3E)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA; Xref=Rhea:RHEA:45228, ChEBI:CHEBI:58521, ChEBI:CHEBI:85097; EC=;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a (3S)-hydroxyacyl-CoA + NAD(+) = a 3-oxoacyl-CoA + H(+) + NADH; Xref=Rhea:RHEA:22432, ChEBI:CHEBI:15378, ChEBI:CHEBI:57318, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:90726; EC=;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Enzyme activity enhanced by acetylation.
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

Phenotypes From GWAS Catalog for EHHADH Gene

Gene Ontology (GO) - Molecular Function for EHHADH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003857 3-hydroxyacyl-CoA dehydrogenase activity TAS --
GO:0004165 dodecenoyl-CoA delta-isomerase activity IEA --
GO:0004300 enoyl-CoA hydratase activity NAS 8188243
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

Clone 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

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 EHHADH gene
Compartment Confidence
peroxisome 5
cytosol 4
mitochondrion 3
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for EHHADH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome IBA,NAS 8188243
GO:0005782 peroxisomal matrix TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with EHHADH: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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:0006475 internal protein amino acid acetylation IDA 20167786
GO:0006625 protein targeting to peroxisome TAS --
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006635 fatty acid beta-oxidation NAS,IBA 8188243
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

(9) Drugs for EHHADH 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
Methacrylyl-CoA Experimental Pharma 0
NAD Experimental Pharma Full agonist, Agonist, Activator 0

(52) 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
  • (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 EHHADH: view

Transcripts for EHHADH Gene


10 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

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

No ASD Table

Relevant External Links for EHHADH Gene

GeneLoc Exon Structure for

Expression for EHHADH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for EHHADH Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EHHADH

SOURCE GeneReport for Unigene cluster for EHHADH Gene:


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.

Evidence on tissue expression from TISSUES for EHHADH Gene

  • Liver(4.8)
  • Kidney(4.6)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tooth
  • chest wall
  • clavicle
  • diaphragm
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • abdominal wall
  • adrenal gland
  • biliary tract
  • duodenum
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
  • pelvis
  • placenta
  • rectum
  • ureter
  • urinary bladder
  • uterus
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with EHHADH: view

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
(Pan troglodytes)
Mammalia EHHADH 31 30
  • 99.54 (n)
(Canis familiaris)
Mammalia EHHADH 31 30
  • 88.06 (n)
(Bos Taurus)
Mammalia EHHADH 31 30
  • 85.71 (n)
(Mus musculus)
Mammalia Ehhadh 17 31 30
  • 80.73 (n)
(Rattus norvegicus)
Mammalia Ehhadh 30
  • 79.96 (n)
(Ornithorhynchus anatinus)
Mammalia EHHADH 31
  • 74 (a)
(Monodelphis domestica)
Mammalia EHHADH 31
  • 64 (a)
(Gallus gallus)
Aves EHHADH 31 30
  • 66.67 (n)
(Anolis carolinensis)
Reptilia EHHADH 31
  • 60 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ehhadh 30
  • 58.88 (n)
(Danio rerio)
Actinopterygii ehhadh 31 30
  • 57.38 (n)
(Caenorhabditis elegans)
Secernentea ech-9 31
  • 32 (a)
F01G10.3 32
  • 32 (a)
ech-8 31
  • 30 (a)
F01G10.2 32
  • 29 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AIM1 30
  • 46.52 (n)
(Oryza sativa)
Liliopsida Os02g0274100 30
  • 47.15 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 46 (a)
-- 31
  • 45 (a)
Species where no ortholog for EHHADH was found in the sources mined by GeneCards:
  • 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)
Evolutionary constrained regions (ECRs) for EHHADH: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EHHADH Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
711376 Benign: not provided 185,204,718(-) A/C MISSENSE_VARIANT
712442 Benign: not provided 185,192,332(-) A/G MISSENSE_VARIANT
712443 Benign: not provided 185,192,348(-) T/C MISSENSE_VARIANT
712444 Benign: not provided 185,192,490(-) T/C SYNONYMOUS_VARIANT
716105 Benign: not provided 185,204,563(-) G/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for EHHADH Gene

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

Variant ID Type Subtype PubMed ID
dgv5002n100 CNV gain 25217958
esv1007727 CNV deletion 20482838
esv1439528 CNV deletion 17803354
esv1781161 CNV deletion 17803354
esv2389688 CNV deletion 18987734
esv2603028 CNV deletion 19546169
esv2726321 CNV deletion 23290073
esv2726322 CNV deletion 23290073
esv2726323 CNV deletion 23290073
esv2726324 CNV deletion 23290073
esv3598965 CNV gain 21293372
nsv1074112 CNV deletion 25765185
nsv829817 CNV gain 17160897
nsv955593 CNV deletion 24416366
nsv967099 CNV duplication 23825009

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)

Additional Variant Information for EHHADH Gene

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

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

Disorders for EHHADH Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
fanconi renotubular syndrome 3
  • frts3
d-bifunctional protein deficiency
  • 17-beta-hydroxysteroid dehydrogenase iv deficiency
fanconi syndrome
  • fanconi renotubular syndrome
  • sudanophilic cerebral sclerosis
zellweger syndrome
  • zs
- 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.

Additional Disease Information for EHHADH

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 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 … Zechner R (Genomics 1994) 2 3 4 23 54
  2. Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome. (PMID: 24401050) Klootwijk ED … Kleta R (The New England journal of medicine 2014) 3 4 54
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  4. Regulation of cellular metabolism by protein lysine acetylation. (PMID: 20167786) Zhao S … Guan KL (Science (New York, N.Y.) 2010) 3 4 54
  5. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 41 54

Products for EHHADH Gene

Sources for EHHADH Gene