About   Help   FAQ
Ehhadh
Gene Detail
 Symbol
Name
ID
Ehhadh
enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase
MGI:1277964
Synonyms 1300002P22Rik, HD, L-bifunctional enzyme, L-PBE, MFP, MFP1
Feature Type protein coding gene
Genetic Map
Chromosome 16
12.86 cM, cytoband B1
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr16:21761287-21787844 bp, - strand
From VEGA annotation of GRCm38

  26558 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:1486  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: enoyl-CoA hydratase/3-hydroxyacyl-CoA dehydrogenase
Gene Tree: Ehhadh

Human
homologs
Human Homolog EHHADH, enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
NCBI Gene ID 1962
neXtProt AC  NX_Q08426, NX_Q9NY65
Human Synonyms  ECHD, FRTS3, LBFP, LBP, L-PBE, PBFE
Human Chr (Location)  3q26.3-q28; chr3:185190624-185254098 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human EHHADH
Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Gene trapped(1) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for disruption of this gene display a normal phenotype.
 
Alleles Annotated to Human Diseases(1)    Phenotype Images(3)
Interactions
Ehhadh interacts with 194 markers (Mir1a-1, Mir1a-2, Mir15a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (33 annotations)
Process acyl-CoA metabolic process, fatty acid beta-oxidation, ...
Component cytoplasm, cytosol, ...
Function 3-hydroxyacyl-CoA dehydrogenase activity, catalytic activity, ...
External Resources: FuncBase
Expression
Literature Summary: (7 records)
Data Summary: Results (174)    Tissues (131)    Images (51)
Theiler Stages: 15, 19, 22, 23, 26, 28
Assay TypeResults
RNA in situ 159
Northern blot 15
cDNA source data(83)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(84) cDNA(83) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000033863 (Evidence)
Ensembl Gene ModelENSMUSG00000022853 (Evidence)
Entrez Gene74147 (Evidence)
UniGene28100
DFCITC1576189
DoTSDT.533752
NIA Mouse Gene IndexU036902
EC1.1.1.35, 4.2.1.17, 5.3.3.8
Consensus CDS ProjectCCDS28063.1
International Mouse Knockout Project StatusEhhadh
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000033863 VEGA Gene Model | MGI Sequence Detail 26558 C57BL/6J ±  kb
transcript OTTMUST00000085347 VEGA | MGI Sequence Detail 3018 Not Applicable 
polypeptide OTTMUSP00000046102 VEGA | MGI Sequence Detail 718 Not Applicable 

For the selected sequences
All sequences(20) RefSeq(4) UniProt(2)
Polymorphisms SNPs within 2kb(155 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006180 3-hydroxyacyl-CoA dehydrogenase, conserved site
InterPro IPR006108 3-hydroxyacyl-CoA dehydrogenase, C-terminal
InterPro IPR006176 3-hydroxyacyl-CoA dehydrogenase, NAD binding
InterPro IPR008927 6-phosphogluconate dehydrogenase, C-terminal-like
InterPro IPR001753 Crotonase superfamily
InterPro IPR013328 Dehydrogenase, multihelical
InterPro IPR018376 Enoyl-CoA hydratase/isomerase, conserved site
InterPro IPR016040 NAD(P)-binding domain
Protein Ontology PR:000006947 peroxisomal bifunctional enzyme
References (Earliest) J:55395 Qi C, et al., Absence of spontaneous peroxisome proliferation in enoyl-CoA Hydratase/L-3-hydroxyacyl-CoA dehydrogenase-deficient mouse liver. Further support for the role of fatty acyl CoA oxidase in PPARalpha ligand metabolism. J Biol Chem. 1999 May 28;274(22):15775-80
(Latest) J:203787 Ding J, et al., The peroxisomal enzyme L-PBE is required to prevent the dietary toxicity of medium-chain fatty acids. Cell Rep. 2013 Oct 17;5(1):248-58
All references(46)
Other
accession IDs
MGI:1921397

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/19/2014
MGI 5.19
The Jackson Laboratory