Ehhadh enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ehhadhprovided by MGI
Official Full Name: enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenaseprovided by MGI
Primary source: MGI:MGI:1277964
See related: Ensembl:ENSMUSG00000022853 AllianceGenome:MGI:1277964
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: HD; LBP; MFP; LBFP; MFE1; MFP1; PBFE; L-PBE; MFP-1; 1300002P22Rik
Summary: Enables 3-hydroxyacyl-CoA dehydratase activity and 3-hydroxyacyl-CoA dehydrogenase (NAD+) activity. Involved in fatty acid derivative biosynthetic process and fatty acid metabolic process. Acts upstream of or within fatty acid beta-oxidation. Located in mitochondrion. Is active in peroxisomal matrix. Is expressed in several structures, including alimentary system; brown fat; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in Fanconi renotubular syndrome 3. Orthologous to human EHHADH (enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase). [provided by Alliance of Genome Resources, Jul 2025]
Expression: Biased expression in liver E18 (RPKM 121.5), kidney adult (RPKM 92.4) and 8 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 B1; 16 12.86 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (21580035..21606589, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (21761285..21787834, complement)

Chromosome 16 - NC_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Acquired deficiency of peroxisomal dicarboxylic acid catabolism is a metabolic vulnerability in hepatoblastoma.
Title: Acquired deficiency of peroxisomal dicarboxylic acid catabolism is a metabolic vulnerability in hepatoblastoma.
Murine deficiency of peroxisomal L-bifunctional protein (EHHADH) causes medium-chain 3-hydroxydicarboxylic aciduria and perturbs hepatic cholesterol homeostasis.
Title: Murine deficiency of peroxisomal L-bifunctional protein (EHHADH) causes medium-chain 3-hydroxydicarboxylic aciduria and perturbs hepatic cholesterol homeostasis.
The Ehhadh is indispensable for the production of medium-chain dicarboxylic acids, providing an explanation for the coordinated induction of mitochondrial and peroxisomal oxidative pathways during fasting.
Title: Peroxisomal L-bifunctional enzyme (Ehhadh) is essential for the production of medium-chain dicarboxylic acids.
bile acid biosynthesis, estimated by the ratio of C27/C24-bile acids, is more severely affected in double knock-out mice as compared with DBP-/- mice but was normal in LBP-/- mice
Title: Developmental changes of bile acid composition and conjugation in L- and D-bifunctional protein single and double knockout mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Ehhadh (e-PCR), detects polymorphism
- UniSTS:527330

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 3-hydroxyacyl-CoA dehydratase activity	IEA Inferred from Electronic Annotation more info
enables 3-hydroxyacyl-CoA dehydratase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables 3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IBA Inferred from Biological aspect of Ancestor more info
enables 3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IEA Inferred from Electronic Annotation more info
enables 3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables 3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	ISO Inferred from Sequence Orthology more info
enables 3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	ISS Inferred from Sequence or Structural Similarity more info
enables 3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	TAS Traceable Author Statement more info	PubMed
enables NAD+ binding	IEA Inferred from Electronic Annotation more info
enables catalytic activity	IEA Inferred from Electronic Annotation more info
enables delta(3)-delta(2)-enoyl-CoA isomerase activity	IEA Inferred from Electronic Annotation more info
enables delta(3)-delta(2)-enoyl-CoA isomerase activity	ISO Inferred from Sequence Orthology more info
enables delta(3)-delta(2)-enoyl-CoA isomerase activity	ISS Inferred from Sequence or Structural Similarity more info
enables enoyl-CoA hydratase activity	IEA Inferred from Electronic Annotation more info
enables enoyl-CoA hydratase activity	ISO Inferred from Sequence Orthology more info
enables enoyl-CoA hydratase activity	ISS Inferred from Sequence or Structural Similarity more info
enables enzyme binding	IEA Inferred from Electronic Annotation more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables intramolecular oxidoreductase activity, transposing C=C bonds	IEA Inferred from Electronic Annotation more info
enables intramolecular oxidoreductase activity, transposing C=C bonds	ISO Inferred from Sequence Orthology more info
enables intramolecular oxidoreductase activity, transposing C=C bonds	ISS Inferred from Sequence or Structural Similarity more info
enables isomerase activity	IEA Inferred from Electronic Annotation more info
enables long-chain-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IEA Inferred from Electronic Annotation more info
enables long-chain-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	ISO Inferred from Sequence Orthology more info
enables long-chain-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	ISS Inferred from Sequence or Structural Similarity more info
enables lyase activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within acyl-CoA metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in alpha-linolenic acid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fatty acid beta-oxidation	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid beta-oxidation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within fatty acid beta-oxidation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fatty acid beta-oxidation	ISO Inferred from Sequence Orthology more info
involved_in fatty acid beta-oxidation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within fatty acid beta-oxidation	TAS Traceable Author Statement more info	PubMed
involved_in fatty acid beta-oxidation using acyl-CoA oxidase	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fatty acid derivative biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fatty acid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in long-chain fatty acid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in unsaturated fatty acid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
is_active_in peroxisomal matrix	IDA Inferred from Direct Assay more info	PubMed
is_active_in peroxisome	IBA Inferred from Biological aspect of Ancestor more info
located_in peroxisome	IEA Inferred from Electronic Annotation more info
located_in peroxisome	ISO Inferred from Sequence Orthology more info
located_in peroxisome	ISS Inferred from Sequence or Structural Similarity more info
located_in peroxisome	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: peroxisomal bifunctional enzyme

Names: L-bifunctional enzyme; L-peroxisomal bifunctional enzyme; L-specific multifunctional beta-oxdiation protein; PBE; multifunctional enzyme 1; multifunctional protein 1

NP_076226.2

EC 1.1.1.35

EC 4.2.1.17

EC 5.3.3.8

XP_006522721.1

EC 1.1.1.35

EC 4.2.1.17

EC 5.3.3.8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_023737.3 → NP_076226.2 peroxisomal bifunctional enzyme

See identical proteins and their annotated locations for NP_076226.2

Status: VALIDATED

Source sequence(s)

AC130214, AK004867, BB841865

Consensus CDS

CCDS28063.1

UniProtKB/Swiss-Prot

Q91W49, Q9DBM2

Related

ENSMUSP00000023559.6, ENSMUST00000023559.7

Conserved Domains (4) summary

cd06558
Location:12 → 186

crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

PRK11154
Location:20 → 702

fadJ; multifunctional fatty acid oxidation complex subunit alpha; Reviewed

pfam00725
Location:473 → 577

3HCDH; 3-hydroxyacyl-CoA dehydrogenase, C-terminal domain

pfam02737
Location:297 → 471

3HCDH_N; 3-hydroxyacyl-CoA dehydrogenase, NAD binding domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000082.7 Reference GRCm39 C57BL/6J

Range

21580035..21606589 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006522658.5 → XP_006522721.1 peroxisomal bifunctional enzyme isoform X1

Conserved Domains (1) summary

PRK11154
Location:21 → 646

fadJ; fatty acid oxidation complex subunit alpha FadJ