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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

EHHADH Gene

protein-coding GIFtS: 59
GCID: GC03M184908

enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase

(Previous names: enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase...)
(Previous symbol: ECHD)

Explore 28 diseases affiliated with
EHHADH via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Enoyl-CoA, Hydratase/3-Hydroxyacyl CoA Dehydrogenase¹ ²		L-PBE²
ECHD¹ ² ³		LBP²
PBFE² ³ ⁵		L-3-Hydroxyacyl-CoA Dehydrogenase²
Enoyl-Coenzyme A, Hydratase/3-Hydroxyacyl Coenzyme A Dehydrogenase¹ ²		L-Bifunctional Protein, Peroxisomal²
PBE² ³		Peroxisomal Bifunctional Enzyme²
LBFP² ⁵		Peroxisomal Enoyl-CoA Hydratase²
3,2-Trans-Enoyl-CoA Isomerase²

External Ids:	HGNC: 3247¹	Entrez Gene: 1962²	Ensembl: ENSG00000113790⁷	OMIM: 607037⁵	UniProtKB: Q08426³

Export aliases for EHHADH gene to outside databases

Previous GC identifers: GC03M181831 GC03M186092 GC03M186310 GC03M186229 GC03M186391 GC03M182318

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for EHHADH:

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)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_005612.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the EHHADH gene promoter:
TBP MEF-2 GCNF HSF1 (long) PPAR-alpha MEF-2A GCNF-1 HSF1short aMEF-2 GCNF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): EHHADH promoter sequence

Search SABiosciences Chromatin IP Primers for EHHADH

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EHHADH

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q26.3-q28 Ensembl cytogenetic band: 3q27.2 HGNC cytogenetic band: 3q26.3-q28

EHHADH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EHHADH gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M184908: view genomic region (about GC identifiers)

Start:	184,908,412 bp from pter	End:	184,999,778 bp from pter
Size:	91,367 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ECHP_HUMAN, Q08426 (See protein sequence)

Recommended Name: Peroxisomal bifunctional enzyme

Size: 723 amino acids; 79495 Da

Subunit: Monomer

Subcellular location: Peroxisome

Miscellaneous: Absent in patients suffering with peroxisomal disorders such as Zellweger syndrome, neonatal

adrenoleukodystrophy and infantile Refsum disease

Secondary accessions: A8K6Y3 B4DWG3 D3DNU0 Q58EZ5

Alternative splicing: 2 isoforms: Q08426-1 Q08426-2

Explore the universe of human proteins at neXtProt for EHHADH: NX_Q08426

Post-translational modifications:

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 acids¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q08426

EHHADH Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001159887.1 NP_001957.2

ENSEMBL proteins:

ENSP00000231887 ENSP00000387746 ENSP00000396798

Human Recombinant Protein Products for EHHADH:

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	Uscn Proteins for EHHADH

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0005739	mitochondrion	IEA	--
GO:0005777	peroxisome	NAS	8188243

EHHADH for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

EHHADH for domains About GeneDecksing

5/8 InterPro domains/families (see all 8):

IPR018376 Enoyl-CoA_hyd/isom_CS

IPR008927 6-PGluconate_DH_C-like

IPR013328 DH_multihelical

IPR006176 3-OHacyl-CoA_DH_NAD-bd

IPR006108 3HC_DH_C

Graphical View of Domain Structure for InterPro Entry Q08426

ProtoNet protein and cluster: Q08426

3 Blocks protein families:

IPB001753 Enoyl-CoA hydratase/isomerase

IPB006176 3-hydroxyacyl-CoA dehydrogenase

IPB006180 3-hydroxyacyl-CoA dehydrogenase

UniProtKB/Swiss-Prot: ECHP_HUMAN, Q08426

Similarity: In the N-terminal section; belongs to the enoyl-CoA hydratase/isomerase family

Similarity: In the C-terminal section; belongs to the 3-hydroxyacyl-CoA dehydrogenase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: ECHP_HUMAN, Q08426

Catalytic activity: (3S)-3-hydroxyacyl-CoA = trans-2(or 3)-enoyl-CoA + H(2)O

Catalytic activity: (3Z)-dodec-3-enoyl-CoA = (2E)-dodec-2-enoyl-CoA

Catalytic activity: (S)-3-hydroxyacyl-CoA + NAD(+) = 3-oxoacyl-CoA + NADH

Enzyme regulation: Enzyme activity enhanced by acetylation

Genatlas biochemistry entry for EHHADH:

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

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0003824	catalytic activity	--	--
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	NAS	8188243
GO:0004165	dodecenoyl-CoA delta-isomerase activity	IEA	--
GO:0004300	enoyl-CoA hydratase activity	NAS	8188243

EHHADH for ontologies About GeneDecksing

Phenotypes:
8 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Ehhadh):

behavior/neurological	cellular	growth/size	homeostasis/metabolism	liver/biliary system
mortality/aging	muscle	nervous system

EHHADH for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Ehhadh^tm1Jkr for EHHADH

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for EHHADH

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		hsa-miR-3163 hsa-miR-1290 hsa-miR-4311 hsa-miR-513a-5p hsa-miR-10b* hsa-miR-4316 hsa-miR-587 hsa-miR-2117

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EHHADH

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Branched-chain amino acid catabolism

	valine degradation I	0.48			Valine, leucine and isoleucine degradation	0.39
	isoleucine degradation I	0.41			Propanoate metabolism	0.07

Fatty Acid Beta Oxidation

Mitochondrial LC-Fatty Acid Beta-Oxidation

0.35

Fatty acid metabolism

0.32

Peroxisome

Peroxisome

1.00

PPAR signaling pathway

PPAR signaling pathway

1.00

beta-Alanine metabolism

beta-Alanine metabolism

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

5 BioSystems Pathways for EHHADH

	isoleucine degradation I
	fatty acid beta-oxidation I
	Mitochondrial LC-Fatty Acid Beta-Oxidation
	valine degradation I
	fatty acid beta-oxidation III (unsaturated, odd number)

5/10 Kegg Pathways (Kegg details for EHHADH) (see all 10):

	Fatty acid metabolism
	Valine, leucine and isoleucine degradation
	Lysine degradation
	Tryptophan metabolism
	beta-Alanine metabolism

UniProtKB/Swiss-Prot: ECHP_HUMAN, Q08426

Pathway: Lipid metabolism; fatty acid beta-oxidation

EHHADH for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for EHHADH

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/41 Interacting proteins for EHHADH (Q08426³ ENSP00000231887⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 41)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MYC	P01106³, ENSP00000367207⁴	I2D: score=1 STRING: ENSP00000367207
SCP2	P22307³, ENSP00000360569⁴	I2D: score=1 STRING: ENSP00000360569
TSG101	Q99816³, ENSP00000251968⁴	I2D: score=1 STRING: ENSP00000251968
AACS	ENSP00000324842⁴	STRING: ENSP00000324842
ACAA1	ENSP00000333664⁴	STRING: ENSP00000333664

About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006475	internal protein amino acid acetylation	IDA	--
GO:0006635	fatty acid beta-oxidation	NAS	8188243

EHHADH for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

EHHADH for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for EHHADH

10/63 HMDB Compounds for EHHADH (see all 63) About this table

Compound	Synonyms	CAS #	PubMed Ids
(2E)-Decenoyl-CoA	(E)-S-2-decenoate Coenzyme A (see all 15)	10018-95-8	--
(2E)-Dodecenoyl-CoA	2-trans-Dodecenoyl-Coenzyme A (see all 4)	1066-12-2	--
(2E)-Hexadecenoyl-CoA	trans-2-Hexadecenoyl-CoA (see all 4)	4460-95-1	--
(2E)-Octenoyl-CoA	(E)-S-2-octenoate Coenzyme A (see all 16)	10018-94-7	--
(2E)-Tetradecenoyl-CoA	(2E)-Tetradecenoyl-Coenzyme A (see all 8)	38795-33-4	--
(2S,6R,10R)-Trimethyl-2E-hendecenoyl-CoA	(2E,6R)-2,6,10-trimethylhendecenoyl-CoA (see all 8)	--	--
(3E,5Z,8Z)-Tetradecatrienoyl-CoA	trans-3-cis,cis-5,8-tetradecatrienoyl-CoA (see all 6)	--	--
(3S)-3-Hydroxy-cis,cis-palmito-7,10-dienoyl-CoA	(3S)-3-hydroxy-cis,cis-hexadeca-7,10-dienoyl-CoA (see all 9)	--	--
(3S)-3-Hydroxy-cis-8-tetradecenoyl-CoA	(3S)-hydroxy-(8Z)-tetradecenoyl-CoA (see all 4)	--	--
(3S)-3-Hydroxyadipyl-CoA	(3S)-3-Hydroxyadipyl-CoEnzyme A	--	--

1 DrugBank Compound for EHHADH About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
NADH	beta-DPNH (see all 18)	606-68-8	target	--	17139284 17016423

10/12 Novoseek chemical compound relationships for EHHADH gene (see all 12) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cetaben	90.8	2	8620053 (1)
3-methylglutaconyl-coa	85.5	1	12655555 (1)
pristanic acid	76.8	1	9482850 (1)
acyl-coa	76	8	11356171 (1), 11455451 (1), 1690188 (1), 1351742 (1) (see all 7)
3-oxoacyl-coa	75	2	1690188 (1), 8620053 (1)
clofibrate	54.1	1	7656903 (1)
fatty acid	52.8	4	11356171 (1), 15299399 (1), 10190314 (1), 10727085 (1)
sterol	28.9	2	15060085 (1)
leucine	14.7	1	15810013 (1)
glutamate	1.85	3	10727085 (1), 15810013 (1), 10413528 (1)

Search CenterWatch for drugs/clinical trials and news about EHHADH / ECHP

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for EHHADH gene (2 alternative transcripts):

NM_001166415.1 NM_001966.3

Unigene Cluster for EHHADH:

Enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase

Hs.429879 [show with all ESTs]

Unigene Representative Sequence: NM_001166415

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000231887(uc011brs.2 uc003fpf.3) ENST00000456310 ENST00000483104

ENST00000475987 ENST00000440662 ENST00000465178

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Additional cDNA sequence:

AK223460.1 AK291798.1 AK301521.1 BC011030.1 BC030982.1 BC038948.1 BC110460.2 L07077.1

S50245.1

6 DOTS entries:

DT.452704 DT.91759101 DT.120846417 DT.91759098 DT.92038091 DT.97804791

24/74 AceView cDNA sequences (see all 74):

BF510336 BP356568 BU735221 T80863 BM974427 BC038948 BC030982 AL691622

R01826 AV687221 H54197 BM696699 CB161217 BM844973 AI800553 AV682617

BX474868 BE789139 BM716448 BQ439994 BG565625 W88658 AK057732 H47825

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

EHHADH expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAAATGGTCT

About this image

EHHADH expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

Definitive Endoderm (Generation of beta c...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See EHHADH Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for EHHADH

SOURCE GeneReport for Unigene cluster: Hs.429879

UniProtKB/Swiss-Prot: ECHP_HUMAN, Q08426

Tissue specificity: Liver and kidney. Lower amounts seen in the brain

SABiosciences Expression via Pathway-Focused PCR Arrays including EHHADH:

Fatty Acid Metabolism in human mouse rat

Amino Acid Metabolism I in human mouse rat

PPAR Targets in human mouse rat

Molecular Toxicology PathwayFinder 384HT in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EHHADH

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for EHHADH gene from 6/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	EHHADH¹	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	66.67(n) 63.21(a)		424877 XM_422690.3 XP_422690.2
lizard (Anolis carolinensis)	Reptilia	EHHADH⁶	--	61(a)	1 ↔ 1	3(34518297-34537407)
zebrafish (Danio rerio)	Actinopterygii	ehhadh¹	enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme more	57.47(n) 55.15(a)		100000859 NM_207068.1 NP_996951.1
worm (Caenorhabditis elegans)	Secernentea	F01G10.3³	enoyl-CoA hydratase	32(a) (best of 2)		IV(10233810-10235293) --
thale cress (Arabidopsis thaliana)	eudicotyledons	MFP2¹	enoyl-CoA hydratase/3-hydroxyacyl-CoA dehydrogenase	44.87(n) 34.6(a)		819870 NM_111566.3 NP_187342.1
rice (Oryza sativa)	Liliopsida	Os05g0155000¹	hypothetical protein	45.98(n) 35.11(a)		4337848 NM_001061222.1 NP_001054687.1

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for EHHADH gene

ECHDC2² AUH² ECH1² ECHDC3² HADHA² ECHS1² HADH² ECHDC1²

2 SIMAP similar genes for EHHADH using alignment to 3 protein entries: ECHP_HUMAN (see all proteins):

ECHS1 HADHA

EHHADH for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs34804133^1,2	C	--	182367885(+)	`TTTTT-/TGGTCA`	1	--	int¹		2		NA CSA	4
rs11350339^1,2	C	--	182377978(+)	`TGCTT-/AAAAGG`	1	--	int¹ trp³		2		NA CSA	4
rs113680287^1,2	C,F	--	184907982(+)	`CTCACG/CCCTGT`	3	--	ds500¹ int¹		2		WA CSA	4
rs142433857^1,2		--	184907991(+)	`GTAATC/GCCAGC`	3	--	int¹ ds500¹		0	--	--	--	--
rs183410169^1,2		--	184908072(+)	`CCCTGC/TCTCTA`	3	--	ds500¹ int¹		0	--	--	--	--
rs149310567^1,2		--	184908105(+)	`CAGGCA/GTGGTG`	3	--	ds500¹ int¹		0	--	--	--	--
rs144550678^1,2		--	184908115(+)	`GGCGGA/GCACCT`	3	--	int¹ ds500¹		0	--	--	--	--
rs116235042^1,2	F	--	184908179(+)	`GCAGAG/TCTTTC`	3	--	ds500¹ int¹		1		WA	118
rs7349494^1,2	C	--	184908215(+)	`ctccaG/Tcctgg`	3	--	ds500¹ int¹		0	--	--	--	--
rs202212092^1,2		--	184908272(+)	`AAAAC-/AAAAAA`	3	--	ds500¹ int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for EHHADH (184908412 - 184999778 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for EHHADH
1 CNV: 98557
3 Indels: 46345 27243 27244

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

EHHADH for disorders           About GeneDecksing

OMIM gene information: 607037    OMIM disorders: --

20/28 diseases for EHHADH (see all 28):    About MalaCards

3-hydroxyacyl-coenzyme a dehydrogenase deficiency d-bifunctional protein deficiency 3-methylglutaconic aciduria zellweger syndrome

acyl-coa dehydrogenase 3 methylglutaconic aciduria type i trifunctional protein deficiency mitochondrial trifunctional protein deficiency

infantile refsum disease protein s deficiency neonatal adrenoleukodystrophy refsum disease

adrenoleukodystrophy mouth disease clonorchiasis renal cell carcinoma

hepatocellular carcinoma hepatitis c hepatoblastoma colon carcinoma

2 diseases from the University of Copenhagen DISEASES database for EHHADH:

Zellweger syndrome Clonorchiasis

6 Novoseek disease relationships for EHHADH gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
d-bifunctional protein deficiency	96	11	9228246 (2), 9187482 (2), 7629669 (1), 10400999 (1) (see all 6)
zellweger syndrome	63.4	3	8967760 (1), 9501266 (1)
adrenoleukodystrophy	55	4	11356171 (1), 15060085 (1)
hepatomegaly	23.5	2	9501266 (1)
hepatocellular carcinoma	1.72	2	10190314 (1), 7955115 (1)
carcinoma	0	1	1359694 (1)

Human Genome Epidemiology (HuGE) Navigator: EHHADH (3 documents)

Export disorders for EHHADH gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for EHHADH gene, integrated from 9 sources (see all 107):
(articles sorted by number of sources associating them with EHHADH)

Utopia: connect your pdf to the dynamic
world of online information

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. (PubMed id 8188243)^{1, 2, 3, 9} Hoefler G....Chen G.L. (1994)
Import of human bifunctional enzyme into peroxisomes of human hepatoma cells in vitro. (PubMed id 1651711)^{1, 2} Chen G.L....Chen W.W. (1991)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)
Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)¹ Hendrickson S.L....O'Brien S.J. (2010)
Genome-wide association study of major depressive dis order: new results, meta-analysis, and lessons learned. (PubMed id 21042317)¹ Wray N.R....Sullivan P.F. (2010)
Regulation of cellular metabolism by protein lysine a cetylation. (PubMed id 20167786)² Zhao S....Guan K.L. (2010)
A genome-wide study of common SNPs and CNVs in cognit ive performance in the CANTAB. (PubMed id 19734545)¹ Need A.C....Goldstein D.B. (2009)
Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)¹ Trynka G....Wijmenga C. (2009)
Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)² Choudhary C.... Mann M. (2009)
Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)¹ Barbe L....Andersson-Svahn H. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1962	HGNC: 3247	AceView: EHHADH	Ensembl:ENSG00000113790	euGenes: HUgn1962
ECgene: EHHADH	Kegg: 1962	H-InvDB: EHHADH

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for EHHADH	Pharmacogenomics, SNPs, Pathways

Intellectual Property for EHHADH gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for EHHADH gene:
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GeneCards and IP:
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enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase

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EHHADH Gene

enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase

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