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HADHB Gene

protein-coding GIFtS: 62

GC02P026379

hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta 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
ECHB ^²
MGC87480 ^²
MSTP029 ^²
TP-BETA ^²
TP-beta ^³
beta-ketothiolase ^²

Descriptions
2-enoyl-Coenzyme A (CoA) hydratase, beta subunit ^²
3-ketoacyl-Coenzyme A (CoA) thiolase of mitochondrial trifunctional protein, beta subunit ^²
acetyl-CoA acyltransferase ^²
hydroxyacyl-Coenzyme A (CoA) dehydrogenase, beta subunit ^²
hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit ^²
mitochondrial trifunctional enzyme, beta subunit ^²
mitochondrial trifunctional protein, beta subunit ^²

External Ids
HGNC: 4803¹
Entrez Gene: 3032²
UniProtKB: P55084³
Ensembl: ENSG00000138029⁷

Search outside databases for aliases for HADHB gene

Previous GC identifers: GC02P026389 GC02P026560 GC02P026442

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

EntrezGene summary for HADHB:

This gene encodes the beta 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 beta

subunit catalyzing the 3-ketoacyl-CoA thiolase activity. Mutations in this gene result in

trifunctional protein deficiency. The encoded protein can also bind RNA and decreases the

stability of some mRNAs. 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. Alternatively spliced transcript variants have been found; however, their full-length

nature is not known. [provided by RefSeq]

(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 HADHB gene

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

HADHB 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 GC02P026379: (about GC identifiers)

Start:	26,321,120 bp from pter
End:	26,366,837 bp from pter
Size:	45,718 bases
Orientation:	plus 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: ECHB_HUMAN, P55084 (See protein sequence)

Recommended Name: Trifunctional enzyme subunit beta, mitochondrial precursor

Size: 474 amino acids; 51294 Da

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

Subcellular location: Mitochondrion

Sequence caution: Sequence=BAA22061.1; Type=Erroneous gene model prediction;

Secondary accessions: B2RB16 O14969 Q53TA6 Q96C77 Q9H3F5 Q9T2V8

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000174.1

ENSEMBL proteins:

ENSP00000385411 ENSP00000325136

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 (HADHB)
	Human Recombinant Proteins from Abnova (HADHB)

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:0005740	mitochondrial envelope	TAS	1550553
GO:0005743	mitochondrial inner membrane	IEA	--
GO:0042645	mitochondrial nucleoid	IDA	18063578

About this table

Antibodies for HADHB:

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

Assays for HADHB:

	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 P55084

ProtoNet protein and cluster: P55084

2 Blocks protein families:

IPB000408 Regulator of chromosome condensation

IPB002155 Thiolase

UniProtKB/Swiss-Prot: ECHB_HUMAN, P55084

Similarity: Belongs to the thiolase 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 (HADHB)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000183

Applied Biosystems Silencer® siRNAs for HADHB

Sigma-Aldrich siRNA and siRNA Panels for HADHB

Sigma-Aldrich shRNA for HADHB

Explore Sigma-Aldrich super-pooled esiRNAs

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

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000183
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000183
untagged cDNA clones in CMV expression vector (see all 2): NM_000183

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_000183

UniProtKB/Swiss-Prot: ECHB_HUMAN, P55084

Catalytic activity: Acyl-CoA + acetyl-CoA = CoA + 3-oxoacyl-CoA

Genatlas biochemistry entry for HADHB:

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

the long chain 3-oxoacyl-CoA thiolase

7 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Hadhb):

	adipose tissue	growth/size	homeostasis/metabolism	life span-post-weaning/aging
liver/biliary system	muscle

5 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	TAS	1550553
GO:0003988	acetyl-CoA C-acyltransferase activity	TAS	8135828
GO:0004300	enoyl-CoA hydratase activity	TAS	1550553
GO:0008415	acyltransferase activity	IEA	--
GO:0016740	transferase activity	IEA	--

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 HADHB (Your Favorite Gene powered by Ingenuity) (see all 11 )

Butanoate Metabolism
Valine, Leucine and Isoleucine Degradation
&beta
Synthesis and Degradation of Ketone Bodies
Pyruvate Metabolism

GeneDecks HADHB for the pathways selected above

About GeneDecksing

UniProtKB/Swiss-Prot: ECHB_HUMAN, P55084

Pathway: Lipid metabolism; fatty acid beta-oxidation

Gene Network Central^TM Interacting Genes and Proteins Network for HADHB

3 Interacting proteins for HADHB (P55084²) via UniProtKB, MINT, and/or STRING

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MAP3K1	Q13233²	MINT-48305
NFKB2	Q00653²	MINT-48725
RIPK2	O43353²	MINT-49063

About this table
4 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 TAS 1550553
GO:0008152 metabolic process 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 HADHB
10/19 Novoseek chemical compound relationships for HADHB gene (see all 19 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
3-ketopalmitoyl-coa	90.98	1	11356167 (1)
i-bop	87.16	3	11055976 (3)
thromboxane a2	83.57	24	17630727 (2), 11901221 (2), 15134434 (2), 10827090 (1) (see all 19)
acyl-coa	79.56	20	9857175 (2), 1586963 (1), 7822275 (1), 16428307 (1) (see all 17)
lignoceric acid	78.10	2	1680308 (1)
thromboxane	73.81	15	16499875 (1), 12726995 (1), 16156795 (1), 18502100 (1) (see all 6)
acetoacetyl coa	64.81	2	18958860 (1), 7748356 (1)
fatty acid	64.21	13	2181395 (1), 1331693 (1), 9605857 (1), 18690865 (1) (see all 13)
acetyl-coa	47.69	3	11988101 (2), 18958860 (1)
sterol	40.93	4	11734571 (1), 15060085 (1), 17343205 (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 (HADHB)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000183

Sigma-Aldrich siRNA and siRNA Panels for HADHB

Sigma-Aldrich shRNA for HADHB

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000183

REFSEQ mRNAs for HADHB gene:

NM_000183.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000183

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000183
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000183
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_000183

Additional cDNA sequence:

AF113209.1 AK095278.1 AK130072.1 AK293142.1 AK302322.1 AK304455.1 AK314455.1 BC014572.1

BC017564.2 BC030824.1 BC066963.1 CR596000.1 CR596672.1 CR597780.1 CR598353.1 CR599982.1

CR608278.1 CR609244.1 CR626668.1 D16481.1

24/38 DOTS entries (see all 38 ):

DT.101972334 DT.449472 DT.100877767 DT.120987071 DT.95353863 DT.95353875 DT.100877775 DT.120986800

DT.120986743 DT.97859955 DT.91765288 DT.95229045 DT.100877752 DT.120986801 DT.120986823 DT.120987088

DT.120987097 DT.120987083 DT.120987095 DT.86854232 DT.40116689 DT.422212 DT.100736320 DT.91765294

24/181 AceView cDNA sequences (see all 181 ):

CR608278 AL545228 D16481 CR596000 CB160660 CR596672 BM759489 BP340775

BX439508 AL557905 BU172467 AL531195 AL531387 BP377978 CB128235 BM473014

AU136373 AU140049 CR609244 CR598353 AI039905 AL583577 AU107199 BP379456

highest scoring ESTs for HADHB:

AI150369 D16481 AA001261 AA002265 AA025469 AA026813 AA036645 AA040188 AA041355 AA043493

Unigene Cluster for HADHB:

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

Hs.515848 [show with all ESTs]

Unigene Representative Sequence: AK095278

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for HADHB (see all 8 )

ExUns:	1a	·	1b	·	1c	^	2	^	3a	·	3b	^	4	^	5	^	6	^	7	^	8	^	9	^	10a	·	10b	^	11	^	12	^	13	^	14	^	15	^	16a	·	16b	^	17a	·	17b
SP1:									-				-
SP2:													-
SP3:
SP4:							-		-		-		-
SP5:									-				-						-		-

About this scheme

ECgene alternative splicing isoforms for HADHB

2 Ensembl transcripts including schematic representations:

ENST00000405867 ENST00000317799

(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

HADHB expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for HADHB

¹ / ² / ³

4 probe-sets matching HADHB 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
39741_at²^{, 3}	U95-A	1	1.00	1.00	0.94	0.99	D16481	1.00	1.00	1.00	1
74819_at²^{, 3}	U95-D	3	0.94	0.92	0.97	1.02	AI150369	1.00	1.00	1.00	1
201007_at²^{, 3}	U133-A	2	1.00	0.95	--	--	NM_000183	0.60	1.00	0.82	1
201007_at²	U133Plus2	2	1.00	0.95	--	--	--	--	--	--	--

About this table

Data from

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

CGAP SAGE TAG: AGATGTGTGG

SOURCE GeneReport for Unigene cluster: Hs.515848
Expression variation in blood from EXPOLDB for HADHB

(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 HADHB gene from 5/13 species (see all 13 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	HADHB¹	--	hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme more	91.47(n) 94.29(a)	607926 XM_844603.1 XP_849696.1
chimpanzee (Pan troglodytes)	HADHB¹	--	hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme more	99.79(n) 100(a)	459080 NM_001034119.1 NP_001029291.1
cow (Bos taurus)	HADHB¹	--	hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme more	90.72(n) 91.98(a)	281811 NM_174336.3 NP_776761.1
rat (Rattus norvegicus)	Hadhb¹	--	hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme more	88.65(n) 89.85(a)	171155 NM_133618.1 NP_598302.1
mouse (Mus musculus)	Hadhb^{1, 5}	5⁵	hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme more^{1, 5}	88.94(n)¹ 91.12(a)¹	231086¹ NM_145558.1¹ NP_663533.1¹ AK033462⁵ AK076814⁵ (see all 17)

About this table Species with no ortholog for HADHB

ENSEMBL Gene Tree for HADHB

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

Paralogs for HADHB gene

ACAA1²

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

10/289 NCBI SNPs in HADHB are shown (see all 289 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 74)

AB	SNP ID	Valid	Chr 2 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs1056471^1,2	A,C,F,H	26366461(+)	`AAATAC/GTTTGC`	1	--	ut3¹		11	NA MN EU EA WA	1004
	rs7601689^1,2	A,C,F,H	26366811(+)	`GGTCAG/ACGTTA`	1	--	ut3¹ ese³		7	EU EA WA NA	558
	rs7575987^1,2	F,H	26366676(+)	`TTGTTC/GTTATC`	1	--	ut3¹		4	EU EA WA	420
--	rs1056603^1,2	H	26366765(+)	`ACACCA/CCTGAA`	1	--	ut3¹ ese³		4	EU EA WA	420
	rs1056601^1,2	H	26366762(+)	`TAAACA/CCCACT`	1	--	ut3¹ ese³		4	EU EA WA	420
	rs7572240^1,2	A,C,F,H	26359249(+)	`ATGGCG/AGAGGA`	1	A/A	syn¹ ese³ trp³		4	EU EA WA	418
	rs7607527^1,2	C,F,H	26355656(+)	`GGACTC/TCTTTC`	1	L/L	syn¹ ese³		5	EU EA WA NA	496
	rs1056389^1,2	C,F,H	26356379(+)	`ACAGTT/CACCAA`	1	V/V	syn¹		8	NA MN EU EA WA	744
	rs7588328^1,2	A,C,F,H	26323292(+)	`GCACTG/ATTTTA`	1	--	int¹		4	EU EA WA	410
	rs6745226^1,2	A,C,F,H	26347101(+)	`TTGCTA/CAATGT`	1	--	int¹		9	EU EA WA NA	740

About this table

HapMap Linkage Disequilibrium images for HADHB (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: 143450 disorders: 609015

UniProtKB/Swiss-Prot: ECHB_HUMAN, P55084

Defects in HADHB 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 three enzyme

activities of the TFP complex

10/11 Novoseek disease relationships for HADHB gene (see all 11 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
rhizomelic chondrodysplasia punctata, type 1	88.75	2	11734571 (1), 15060085 (1)
chondrodysplasia punctata rhizomelic	81.21	1	8059925 (1)
d-bifunctional protein deficiency	80.24	4	11734571 (1), 15060085 (1)
zellweger syndrome	77.48	1	8463903 (1)
peroxisomal disorders	75.09	2	8463903 (1), 7510868 (1)
protein deficiency	66.27	2	17143551 (1), 9259266 (1)
adrenoleukodystrophy	52.24	3	2049396 (1), 11734571 (1), 15060085 (1)
enzyme deficiency	49.68	1	7510868 (1)
erythroleukemia	46.94	2	16499875 (1), 16156795 (1)
myocardial ischemia	11.56	1	15074776 (1)

About this table

Human Gene Mutation Database: HADHB

(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

10/128 PubMed articles for HADHB gene (see all 128 ):

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)
Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency. (PubMed id 9259266)^{1, 3, 4} Orii K.E.... Hashimoto T. (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)
Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits. (PubMed id 8651282)^{1, 3, 4} Ushikubo S.... Hashimoto T. (1996)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)^{3, 4} Hillier L.W....Wilson R.K. (2005)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{3, 4} Ota T....Sugano S. (2004)
Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes. (PubMed id 15242332)^{3, 4} Aboulaich N.... Vener A.V. (2004)
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)
Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. (PubMed id 12754706)^{3, 4} Spiekerkoetter U.... Strauss A.W. (2003)
Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)^{3, 4} Gevaert K.... Vandekerckhove J. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
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, and/or H-InvDB)
About This Section

Entrez Gene: 3032	HGNC: 4803	AceView: HADHB	Ensembl:ENSG00000138029	euGenes: HUgn3032
ECgene: HADHB	H-InvDB: HADHB

(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=HADHB

Licensable Technologies for HADHB
(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 HADHB:

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 HADHB-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 HADHB		Antibodies for HADHB
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for HADHB		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
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Antibodies for HADHB

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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

Developed at the Crown Human Genome Center & Weizmann Institute of Science

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

protein-coding GIFtS: 62

Aliases &
Descriptions
for HADHB

Summaries
for HADHB

Genomic Location
for HADHB

Proteins
for HADHB

Protein Domains/
Families
for HADHB

Gene Function
for HADHB

Pathways & Interactions
for HADHB

Drugs & Compounds
for HADHB

Transcripts
for HADHB

Expression
for HADHB

Orthologs
for HADHB

Paralogs
for HADHB

SNPs/Variants
for HADHB

Disorders & Mutations
for HADHB

Medical News
for HADHB

Publications
for HADHB

Search for HADHB

Genome Databases showing HADHB

Other Databases showing HADHB

Specialized Databases showing HADHB

Licensable Technologies
for HADHB

Services
for HADHB

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

HADHB Gene

protein-coding GIFtS: 62

Aliases & Descriptionsfor HADHB

Summariesfor HADHB

Genomic Locationfor HADHB

Proteinsfor HADHB

Protein Domains/Familiesfor HADHB

Gene Functionfor HADHB

Pathways & Interactionsfor HADHB

Drugs & Compoundsfor HADHB

Transcriptsfor HADHB

Expression for HADHB

Orthologsfor HADHB

Paralogsfor HADHB

SNPs/Variantsfor HADHB

Disorders & Mutationsfor HADHB

Medical Newsfor HADHB

Publicationsfor HADHB

Search for HADHB

Genome Databases showing HADHB

Other Databases showing HADHB

Specialized Databases showing HADHB

Licensable Technologiesfor HADHB

Servicesfor HADHB

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 HADHB

Summaries
for HADHB

Genomic Location
for HADHB

Proteins
for HADHB

Protein Domains/
Families
for HADHB

Gene Function
for HADHB

Pathways & Interactions
for HADHB

Drugs & Compounds
for HADHB

Transcripts
for HADHB

Expression
for HADHB

Orthologs
for HADHB

Paralogs
for HADHB

SNPs/Variants
for HADHB

Disorders & Mutations
for HADHB

Medical News
for HADHB

Publications
for HADHB

Licensable Technologies
for HADHB

Services
for HADHB