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HADHA Gene

protein-coding GIFtS: 66

GC02M026325

hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

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

Aliases
ECHA ^²
GBP ^¹, ²
HADH ^², ³
LCHAD ^²
MGC1728 ^²
MTPA ^², ⁵
OTTHUMP00000122457 ^²
TP-ALPHA ^²
TP-alpha ^³

Descriptions
3-ketoacyl-Coenzyme A (CoA) thiolase, alpha subunit ^²
3-oxoacyl-CoA thiolase ^²
78 kDa gastrin-binding protein ^², ³
hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit ^²
mitochondrial long-chain 2-enoyl-Coenzyme A (CoA) hydratase, alpha subunit ^²
mitochondrial long-chain L-3-hydroxyacyl-Coenzyme A (CoA) dehydrogenase, alpha subunit ^²
mitochondrial trifunctional enzyme, alpha subunit ^²
mitochondrial trifunctional protein, alpha subunit ^²

External Ids
HGNC: 4801¹
Entrez Gene: 3030²
UniProtKB: P40939³
Ensembl: ENSG00000084754⁷

Search outside databases for aliases for HADHA gene

Previous GC identifers: GC02M026334 GC02M026506 GC02M026388

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

EntrezGene summary for HADHA:

This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the

last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial

membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha

subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities.

Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes

of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to

each other in the human genome in a head-to-head orientation. [provided by RefSeq]

UniProtKB/Swiss-Prot: ECHA_HUMAN, P40939

Function: Bifunctional subunit

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the HADHA gene

Entrez Gene cytogenetic band: 2p23 Ensembl cytogenetic band: 2p23.3 HGNC cytogenetic band: 2p23

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

GeneLoc gene densities for chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M026325: (about GC identifiers)

Start:	26,267,008 bp from pter
End:	26,321,098 bp from pter
Size:	54,091 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000002.10 NT_022184.14

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: ECHA_HUMAN, P40939 (See protein sequence)

Recommended Name: Trifunctional enzyme subunit alpha, mitochondrial precursor

Size: 763 amino acids; 83000 Da

Subunit: Octamer of 4 alpha (HADHA) and 4 beta (HADHB) subunits

Subcellular location: Mitochondrion

Secondary accessions: Q16679 Q96GT7

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000173.2

ENSEMBL proteins:

ENSP00000370023

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (HADHA)
	Human Recombinant Proteins from Abnova (HADHA)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

4 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IEA	--
GO:0005743	mitochondrial inner membrane	IEA	--
GO:0016507	fatty acid beta-oxidation multienzyme complex	IEA	--
GO:0042645	mitochondrial nucleoid	IDA	18063578

About this table

Antibodies for HADHA:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for HADHA
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (HADHA), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (HADHA)
	Novus Biologicals Antibody for HADHA

Assays for HADHA:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

Graphical View of Domain Structure for InterPro Entry P40939

ProtoNet protein and cluster: P40939

3 Blocks protein families:

IPB001753 Enoyl-CoA hydratase/isomerase

IPB006176 3-hydroxyacyl-CoA dehydrogenase

IPB006180 3-hydroxyacyl-CoA dehydrogenase

UniProtKB/Swiss-Prot: ECHA_HUMAN, P40939

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

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

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (HADHA)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000182

Applied Biosystems Silencer® siRNAs for HADHA

Sigma-Aldrich siRNA and siRNA Panels for HADHA

Sigma-Aldrich shRNA for HADHA

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for HADHA
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000182
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000182
untagged cDNA clone in CMV expression vector: NM_000182

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000182

UniProtKB/Swiss-Prot: ECHA_HUMAN, P40939

Function: Bifunctional subunit

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

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

Genatlas biochemistry entry for HADHA:

mitochondrial,membrane bound,fatty acid beta-oxidation trifunctional enzyme,alpha subunit harboring

the long chain 2-enoyl-CoA hydratase and the long chain 3-hydroxyacyl-CoA dehydrogenase

domains,linked to HADHB in head to head arrangement on opposite strand with a common 350bp

flanking region

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

	embryogenesis	growth/size	homeostasis/metabolism	lethality-prenatal/perinatal
liver/biliary system	muscle	renal/urinary system

5/11 Gene Ontology (GO) molecular function terms (links to tree view) (see all 11 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000062	acyl-CoA binding	IEA	--
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	TAS	8135828
GO:0003985	acetyl-CoA C-acetyltransferase activity	TAS	8135828
GO:0003988	acetyl-CoA C-acyltransferase activity	IEA	--
GO:0004300	enoyl-CoA hydratase activity	TAS	8135828

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

5/11 Sigma-Aldrich "Your Favorite Gene" Pathways for HADHA (Your Favorite Gene powered by Ingenuity) (see all 11 )

&beta
Valine, Leucine and Isoleucine Degradation
Lysine Degradation
Synthesis and Degradation of Ketone Bodies
Fatty Acid Metabolism

GeneDecks HADHA for the pathways selected above

About GeneDecksing

UniProtKB/Swiss-Prot: ECHA_HUMAN, P40939

Pathway: Lipid metabolism; fatty acid beta-oxidation

5/54 Interacting proteins for HADHA (ENSP00000370023³ P40939²) via UniProtKB, MINT, and/or STRING (see all 54 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MAP3K1	Q13233²	MINT-48319
NFKB2	Q00653²	MINT-48735
RIPK3	Q9Y572²	MINT-49119
TNFRSF1A	P19438²	MINT-49333
TRAF6	Q9Y4K3²	MINT-49591

About this table

5 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006629	lipid metabolic process	IEA	--
GO:0006631	fatty acid metabolic process	IEA	--
GO:0006635	fatty acid beta-oxidation	IEA	--
GO:0042493	response to drug	IEA	--
GO:0055114	oxidation reduction	IEA	--

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for HADHA
10/23 Novoseek chemical compound relationships for HADHA gene (see all 23 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
i-bop	83.11	3	11055976 (3)
3-ketopalmitoyl-coa	82.63	1	7936829 (1)
gastrin 17	78.60	3	7851540 (2)
thromboxane a2	77.40	26	17630727 (2), 11901221 (2), 10506165 (2), 10827090 (1) (see all 17)
fatty acid	75.82	48	15858960 (3), 10682306 (2), 7811722 (1), 12487544 (1) (see all 32)
3-oxoacyl-coa	74.31	5	1401059 (2), 1445348 (1), 1438378 (1)
acyl-coa	73.30	28	7822275 (1), 12487544 (1), 16617370 (1), 9762600 (1) (see all 14)
thromboxane	68.70	15	14560042 (2), 16499875 (1), 9139686 (1), 12726995 (1) (see all 9)
s-adenosylmethionine	68.00	10	16414039 (2), 10400133 (1), 17143551 (1), 12809642 (1) (see all 8)
17-phenyl-trinor-pge2	66.86	5	11015313 (3), 15100160 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (HADHA)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000182

Sigma-Aldrich siRNA and siRNA Panels for HADHA

Sigma-Aldrich shRNA for HADHA

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000182

REFSEQ mRNAs for HADHA gene:

NM_000182.4

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000182

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000182
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000182
                                 untagged cDNA clone in CMV expression vector: NM_000182

Additional cDNA sequence:

AK124989.1 AK293398.1 AK299258.1 AK302532.1 AK313027.1 BC009235.2 CR622711.1 CR626125.1

D16480.1 FJ626228.1 U04627.1

24/44 DOTS entries (see all 44 ):

DT.100736320 DT.120986734 DT.100736337 DT.451939 DT.91881656 DT.100736359 DT.100736304 DT.120986853

DT.100704840 DT.120987067 DT.91714501 DT.120986828 DT.99926546 DT.100736334 DT.121176814 DT.100746276

DT.408288 DT.120986780 DT.100802728 DT.91684649 DT.120986758 DT.91921667 DT.91782316 DT.102839310

24/1063 AceView cDNA sequences (see all 1063 ):

AI674216 BX406264 BQ891909 AW025582 F07114 BM721773 BE561174 BQ057138

AA428328 BF095502 BE270414 CA392958 CF552319 BU740364 CF552453 AU125090

BM561652 BX437985 CB136188 BU542894 BM471741 BI260439 BG761626 BM824357

highest scoring ESTs for HADHA:

D16480 AA082416 AA179527 AA204815 AA296684 AA853637 AL036724 AL514264 AL542066 AL542721

Unigene Cluster for HADHA:

Hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit

Hs.516032 [show with all ESTs]

Unigene Representative Sequence: NM_000182

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for HADHA

ExUns:	1	^	2	^	3	^	4	^	5	^	6a	·	6b	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16a	·	16b	^	17	^	18	^	19	^	20	^	21a	·	21b
SP1:									-
SP2:
SP3:

About this scheme

ECgene alternative splicing isoforms for HADHA

1 Ensembl transcript including schematic representation:

ENST00000380649

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

HADHA expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for HADHA

¹ / ² / ³

10 probe-sets matching HADHA gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
52313_at²^{, 3}	U95-B	1	1.00	1.00	0.98	1.00	AI972144	0.60	1.00	0.82	1
36952_at²^{, 3}	U95-A	1	1.00	1.00	0.98	1.00	D16480	1.00	1.00	1.00	1
208630_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AI972144	0.60	1.00	0.82	1
208631_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	U04627	0.80	1.00	0.91	1
208629_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	BG472176	0.80	1.00	0.91	1
217156_at*²	U133-A	NULL	0.00	0.00	--	--	--	--	--	--	--
208630_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
208631_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
208629_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
217156_at*²	U133Plus2	NULL	0.00	0.00	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: CCTCGCTCAG

SOURCE GeneReport for Unigene cluster: Hs.516032
Expression variation in blood from EXPOLDB for HADHA

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for HADHA gene from 5/16 species (see all 16 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	HADHA¹	--	hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme more	89.63(n) 89.76(a)	475687 XM_532894.2 XP_532894.1
chimpanzee (Pan troglodytes)	HADHA¹	--	hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme more	99.65(n) 99.87(a)	459079 XM_515339.2 XP_515339.2
cow (Bos taurus)	HADHA¹	--	hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme more	88.02(n) 87.7(a)	281810 NM_174335.2 NP_776760.1
rat (Rattus norvegicus)	Hadha¹	--	hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme more	83.36(n) 83.75(a)	170670 NM_130826.1 NP_570839.1
mouse (Mus musculus)	Hadha^{1, 5}	5⁵	hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme more^{1, 5}	85.54(n)¹ 86.5(a)¹	97212¹ NM_178878.2¹ NP_849209.1¹ AK029017⁵ AK035316⁵ (see all 40)

About this table Species with no ortholog for HADHA

ENSEMBL Gene Tree for HADHA

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

Paralogs for HADHA gene

EHHADH² HADH²

Pseudogenes

1 related pseudogene

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/253 NCBI SNPs in HADHA are shown (see all 253 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 79)

AB	SNP ID	Valid	Chr 2 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
--	rs7260^1,2	A,C,F	26267421(-)	`TTCCTA/GTTGGA`	1	--	ut3¹		8		MN EA CSAM	2274
	rs1049984^1,2	C,F,H	26267324(-)	`CCCAAG/AAGGCC`	1	--	ut3¹ ese³		9		MN CSAM EA EU WA	814
--	rs1049987^1,2	A,C,F	26267321(-)	`AAGAGG/ACCAGG`	1	--	ut3¹ ese³		7		MN CSAM EA	772
	rs3791731^1,2	C,F,H	26266872(+)	`CCCTGA/CTATGC`	1	--	ng5¹		5		EA EU WA	1914
--	rs1050007^1,2	C	26267290(-)	`CAGTTC/TTGCMC`	1	--	ut3¹ ese³		5		MN CSAM EA	396
--	rs4987065^1,2	F	26267382(-)	`CCCCGA/GGGCCT`	1	--	ut3¹ ese³		5		MN CSAM EA	400
--	rs15216^1,2	C	26267403(-)	`GCCCAC/ATGCTC`	1	--	ut3¹ ese³		6		MN CSAM EA	584
	rs1063448^1,2	C	26267341(-)	`CCTCTC/TTGCCT`	1	--	ut3¹ ese³		6		MN CSAM EA	584
--	rs1063450^1,2	C	26267286(-)	`TCTGCA/CCCCAG`	1	--	ut3¹ ese³		6		MN CSAM EA	580
	rs3828255^1,2	C	26266756(+)	`CAGGGA/GGTGGG`	1	--	ng5¹		0	--	--	--	--

About this table

HapMap Linkage Disequilibrium images for HADHA (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 600890 disorders: 609016 609015 609016 609016

UniProtKB/Swiss-Prot: ECHA_HUMAN, P40939

Defects in HADHA are a cause of trifunctional protein deficiency (TFP deficiency)

[MIM:609015]. The clinical manifestations are very variable and include hypoglycemia,

cardiomyopathy and sudden death. Phenotypes with mainly hepatic and neuromyopathic involvement can

also be distinguished. Biochemically, TFP deficiency is defined by the loss of all enzyme

activities of the TFP complex

Defects in HADHA are the cause of long-chain 3-hydroxyl-CoA dehydrogenase deficiency

(LCHAD deficiency) [MIM:609016]. The clinical features are very similar to TFP deficiency.

Biochemically, LCHAD deficiency is characterized by reduced long-chain 3-hydroxyl-CoA

dehydrogenase activity, while the other enzyme activities of the TFP complex are normal or only

slightly reduced

Defects in HADHA are a cause of maternal acute fatty liver of pregnancy (AFLP)

[MIM:609016]. AFLP is a severe maternal illness occurring during pregnancies with affected

fetuses. This disease is associated with LCHAD deficiency and characterized by sudden unexplained

infant death or hypoglycemia and abnormal liver enzymes (Reye-like syndrome)

10/36 Novoseek disease relationships for HADHA gene (see all 36 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
reye-like syndrome	87.22	5	7846063 (1), 10518281 (1), 8809345 (1)
protein deficiency	83.20	9	12487544 (1), 16040264 (1), 17143551 (1), 16297647 (1) (see all 7)
hellp syndrome	74.42	16	10926288 (5), 17313315 (1), 15858960 (1), 8827903 (1) (see all 9)
abetalipoproteinemia	74.12	9	16423905 (2), 15896654 (2), 16297647 (1), 15845636 (1) (see all 5)
fatty liver	73.64	14	7846063 (2), 18408953 (2), 8777838 (1), 10352164 (1) (see all 10)
mcad deficiency	72.98	3	12487544 (1), 19255872 (1)
hypoglycemia	68.26	11	7846063 (1), 17143551 (1), 10638050 (1), 10352164 (1) (see all 9)
cardiomyopathy	66.28	9	17143551 (1), 12971423 (1), 10518281 (1), 16163656 (1) (see all 7)
metabolic disorder	58.64	6	12487544 (1), 10229030 (1), 18162058 (1), 10789927 (1)
rhabdomyolysis	55.16	5	16876451 (1), 16163656 (1), 15845636 (1)

About this table

Human Gene Mutation Database: HADHA
Genetic Association Database: HADHA
Human Genome Epidemiology Navigator: HADHA (4 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

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

10/190 PubMed articles for HADHA gene (see all 190 ):

Structures of the human cDNA and gene encoding the 78 kDa gastrin-binding protein and of a related pseudogene. (PubMed id 7918661)^{1, 2, 3, 4} Zhang Q.X. and Baldwin G.S. (1994)
Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene. (PubMed id 8770876)^{1, 3, 4} Ijlst L.... Wanders R.J.A. (1996)
The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy. (PubMed id 7846063)^{1, 3, 4} Sims H.F.... Strauss A.W. (1995)
Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein. (PubMed id 7811722)^{1, 3, 4} Ijlst L.... Hashimoto T. (1994)
Fluorescence in situ hybridization mapping of the alpha and beta subunits (HADHA and HADHB) of human mitochondrial fatty acid beta-oxidation multienzyme complex to 2p23 and their evolution. (PubMed id 9605857)^{1, 2, 3} Aoyama T....Fukushima Y. (1997)
Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients. (PubMed id 8163672)^{1, 3, 4} Kamijo T....Hashimoto T. (1994)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{3, 4} Olsen J.V....Mann M. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
Prospective screening for pediatric mitochondrial trifunctional protein defects in pregnancies complicated by liver disease. (PubMed id 12413376)^{3, 6} Yang Z....Ibdah J.A. (2002)
Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation. (PubMed id 9739053)^{3, 4} Ibdah J.A.... Strauss A.W. (1998)

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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 3030	HGNC: 4801	AceView: HADHA	Ensembl:ENSG00000084754	euGenes: HUgn3030
ECgene: HADHA	H-InvDB: HADHA

(According to HUGE)
About This Section

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

Name	Description
GeneReviews	http://www.genetests.org/query?gene=HADHA

Licensable Technologies for HADHA
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for HADHA:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for HADHA-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for HADHA		Antibodies for HADHA
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for HADHA		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (HADHA)
	Antibodies (HADHA)
	Search for Chimera RNAi
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

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	Recombinant Proteins (HADHA)
	Antibodies (HADHA)

Search OriGene for HADHA

Search Tocris compounds for HADHA

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for HADHA

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

about GIFtS

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
HADHA Gene at Home site.
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HADHA Gene

protein-coding GIFtS: 66

Aliases &
Descriptions
for HADHA

Summaries
for HADHA

Genomic Location
for HADHA

Proteins
for HADHA

Protein Domains/
Families
for HADHA

Gene Function
for HADHA

Pathways & Interactions
for HADHA

Drugs & Compounds
for HADHA

Transcripts
for HADHA

Expression
for HADHA

Orthologs
for HADHA

Paralogs
for HADHA

SNPs/Variants
for HADHA

Disorders & Mutations
for HADHA

Medical News
for HADHA

Publications
for HADHA

Search for HADHA

Genome Databases showing HADHA

Other Databases showing HADHA

Specialized Databases showing HADHA

Licensable Technologies
for HADHA

Services
for HADHA

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

HADHA Gene

protein-coding GIFtS: 66

Aliases & Descriptionsfor HADHA

Summariesfor HADHA

Genomic Locationfor HADHA

Proteinsfor HADHA

Protein Domains/Familiesfor HADHA

Gene Functionfor HADHA

Pathways & Interactionsfor HADHA

Drugs & Compoundsfor HADHA

Transcriptsfor HADHA

Expression for HADHA

Orthologsfor HADHA

Paralogsfor HADHA

SNPs/Variantsfor HADHA

Disorders & Mutationsfor HADHA

Medical Newsfor HADHA

Publicationsfor HADHA

Search for HADHA

Genome Databases showing HADHA

Other Databases showing HADHA

Specialized Databases showing HADHA

Licensable Technologiesfor HADHA

Servicesfor HADHA

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for HADHA

Summaries
for HADHA

Genomic Location
for HADHA

Proteins
for HADHA

Protein Domains/
Families
for HADHA

Gene Function
for HADHA

Pathways & Interactions
for HADHA

Drugs & Compounds
for HADHA

Transcripts
for HADHA

Expression
for HADHA

Orthologs
for HADHA

Paralogs
for HADHA

SNPs/Variants
for HADHA

Disorders & Mutations
for HADHA

Medical News
for HADHA

Publications
for HADHA

Licensable Technologies
for HADHA

Services
for HADHA