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Ehhadh Gene Detail
Summary
  • Symbol
    Ehhadh
  • Name
    enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase
  • Synonyms
    1300002P22Rik, HD, L-bifunctional enzyme, L-PBE, MFP, MFP1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1277964
    NCBI Gene: 74147
Location & Maps
more
  • Sequence Map
    Chr16:21761287-21787844 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      26558 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 12.86 cM, cytoband B1
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    EHHADH, enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    EHHADH, enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
    Orthology source: HomoloGene
  • Synonyms
    ECHD, FRTS3, LBFP, LBP, L-PBE, PBFE
  • Links
    NCBI Gene ID: 1962
    neXtProt AC: NX_Q08426, NX_Q9NY65

  • Chr Location
    3q26.3-q28; chr3:185190624-185282886 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human EHHADH associations

Human Disease Mouse Models
       Fanconi Renotubular Syndrome 3; FRTS3   OMIM: 615605
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    2 phenotypes from 1 allele in 1 genetic background
    14 phenotypes from multigenic genotypes
    3 images
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for disruption of this gene display a normal phenotype.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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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 sequence
Polymorphisms
less
  • SNPs within 2kb
    155 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 84
    cDNA 83
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGI:1921397
References
more
  • Summaries
    All 44
    Developmental Gene Expression 8
    Diseases 2
    Gene Ontology 9
    Phenotypes 11
  • 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:228779 Alpern D, et al., TAF4, a subunit of transcription factor II D, directs promoter occupancy of nuclear receptor HNF4A during post-natal hepatocyte differentiation. Elife. 2014;3:e03613

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory