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HADHB Gene

protein-coding   GIFtS: 65
GCID: GC02P026466

Hydroxyacyl-CoA Dehydrogenase/3-Ketoacyl-CoA Thiolase/Enoyl-CoA...

(Previous names: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme...)
  See HADHB-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Hydroxyacyl-CoA Dehydrogenase/3-Ketoacyl-CoA Thiolase/Enoyl-CoA
Hydratase (Trifunctional Protein), Beta Subunit1 2
     TP-BETA2
Hydroxyacyl-Coenzyme A Dehydrogenase/3-Ketoacyl-Coenzyme A
Thiolase/Enoyl-Coenzyme A Hydratase (Trifunctional Protein), Beta Subunit1 2
     Acetyl-CoA Acyltransferase2
Beta Subunit1     beta-ketothiolase2
Mitochondrial Trifunctional Protein1     Trifunctional Enzyme Subunit Beta, Mitochondrial2
2-Enoyl-Coenzyme A (CoA) Hydratase, Beta Subunit2     TP-beta3
3-Ketoacyl-Coenzyme A (CoA) Thiolase Of Mitochondrial Trifunctional
Protein, Beta Subunit2
     EC 2.3.18
ECHB2     EC 2.3.1.168
MTPB2     

External Ids:    HGNC: 48031   Entrez Gene: 30322   Ensembl: ENSG000001380297   OMIM: 1434505   UniProtKB: P550843   

Export aliases for HADHB gene to outside databases

Previous GC identifers: GC02P026389 GC02P026560 GC02P026442 GC02P026379 GC02P026321 GC02P026213


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HADHB Gene:
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. 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. Mutations in this gene result in trifunctional protein deficiency.
Alternatively spliced transcript variants encoding different isoforms have been described. (provided by RefSeq,
Jul 2013)

GeneCards Summary for HADHB Gene:
HADHB (hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit) is a protein-coding gene. Diseases associated with HADHB include mitochondrial trifunctional protein deficiency, and trifunctional protein deficiency. GO annotations related to this gene include protein complex binding and fatty-acyl-CoA binding. An important paralog of this gene is ACAT1.

Gene Wiki entry for HADHB Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_022184.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the HADHB gene promoter:
         SRF   GR   Egr-3   SRF (504 AA)   STAT5A   GATA-2   Egr-4   HNF-1A   HNF-1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHADHB promoter sequence
   Search Chromatin IP Primers for HADHB

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HADHB


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

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)
HADHB gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P026466:  view genomic region     (about GC identifiers)

Start:
26,466,038 bp from pter      End:
26,513,336 bp from pter
Size:
47,299 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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. Interacts with RSAD2/viperin
Sequence caution: Sequence=BAA22061.1; Type=Erroneous gene model prediction;
Secondary accessions: B2RB16 O14969 Q53TA6 Q96C77 Q9H3F5 Q9T2V8

Explore the universe of human proteins at neXtProt for HADHB: NX_P55084

Explore proteomics data for HADHB at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys72, Lys268
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for HADHB (P55084) (see all 13)
     LTDGASA  GTVTAAN  APAVQTK  DGASAML 


    See HADHB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000174.1  NP_001268441.1  NP_001268442.1  

    ENSEMBL proteins: 
     ENSP00000415300   ENSP00000325136   ENSP00000385411   ENSP00000404633   ENSP00000413103  
     ENSP00000444295   ENSP00000442665  
    Reactome Protein details: P55084

    HADHB Human Recombinant Protein Products:

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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for HADHB
    OriGene Custom MassSpec
    OriGene Custom Protein Services for HADHB
    GenScript Custom Purified and Recombinant Proteins Services for HADHB
    Novus Biologicals HADHB Proteins
    Novus Biologicals HADHB Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for HADHB 

    HADHB Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals HADHB Antibodies
    Abcam antibodies for HADHB (P55084, P40939)
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for HADHB
    LSBio Antibodies in human, mouse, rat for HADHB

    HADHB Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for HADHB
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HADHB
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for HADHB 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 8):
     IPR020610 Thiolase_AS
     IPR020613 Thiolase_CS
     IPR016038 Thiolase-like_subgr
     IPR020615 Thiolase_acyl_enz_int_AS
     IPR002155 Thiolase

    Graphical View of Domain Structure for InterPro Entry P55084

    ProtoNet protein and cluster: P55084

    2 Blocks protein domains:
    IPB000408 Regulator of chromosome condensation
    IPB002155 Thiolase


    UniProtKB/Swiss-Prot: ECHB_HUMAN, P55084
    Similarity: Belongs to the thiolase family


    Find genes that share domains with HADHB           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Enzyme Numbers (IUBMB): EC 2.3.12 EC 2.3.1.162

         Gene Ontology (GO): Selected molecular function terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000062fatty-acyl-CoA binding IEA--
    GO:0003824catalytic activity ----
    GO:00038573-hydroxyacyl-CoA dehydrogenase activity TAS1550553
    GO:0003988acetyl-CoA C-acyltransferase activity IEA--
    GO:0004300enoyl-CoA hydratase activity IEA--
         
    Find genes that share ontologies with HADHB           About GenesLikeMe


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Hadhb):
     adipose tissue  cardiovascular system  growth/size/body  homeostasis/metabolism  liver/biliary system 
     mortality/aging  muscle 

    Find genes that share phenotypes with HADHB           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HADHB
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HADHB

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HADHB
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HADHB

    miRNA
    Products:
        
    miRTarBase miRNAs that target HADHB:
    hsa-mir-99a-5p (MIRT048639), hsa-mir-1229-3p (MIRT036297), hsa-mir-124-3p (MIRT002711), hsa-mir-193b-3p (MIRT016498)

    Block miRNA regulation of human, mouse, rat HADHB using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HADHB (see all 11):
    hsa-miR-3685 hsa-miR-203 hsa-miR-4317 hsa-miR-520d-5p hsa-miR-605 hsa-miR-33a hsa-miR-670 hsa-miR-524-5p
    SwitchGear 3'UTR luciferase reporter plasmidHADHB 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HADHB
    Predesigned siRNA for gene silencing in human, mouse, rat HADHB

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HADHB

    Clone
    Products:
         
    OriGene clones in human, mouse for HADHB (see all 7)
    OriGene ORF clones in mouse, rat for HADHB
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HADHB (NM_000183)
    Sino Biological Human cDNA Clone for HADHB
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HADHB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HADHB

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for HADHB
    Browse ESI BIO Cell Lines and PureStem Progenitors for HADHB 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HADHB

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-12361) for HADHB 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ECHB_HUMAN, P55084: Mitochondrion. Mitochondrion inner membrane. Mitochondrion outer membrane. Endoplasmic
    reticulum
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    mitochondrion5
    nucleus3
    peroxisome2
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion NAS7958339
    GO:0005740mitochondrial envelope TAS1550553
    GO:0005741mitochondrial outer membrane IDA--
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005783endoplasmic reticulum IDA--

    Find genes that share ontologies with HADHB           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for HADHB About   (see all 13)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    ketogenesis0.00
    mitochondrial fatty acid beta-oxidation of saturated fatty acids0.00
    mitochondrial fatty acid beta-oxidation of unsaturated fatty acids0.00
    Beta oxidation of myristoyl-CoA to lauroyl-CoA0.00
    Mitochondrial Fatty Acid Beta-Oxidation0.00
    Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA0.00
    Beta oxidation of palmitoyl-CoA to myristoyl-CoA0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3Valine, leucine and isoleucine degradation
    Valine, leucine and isoleucine degradation0.31
    isoleucine degradation I0.00
    4tryptophan utilization II
    tryptophan utilization II0.71
    tryptophan degradation0.00
    tryptophan utilization I0.71
    glutaryl-CoA degradation0.00
    5superpathway of cholesterol biosynthesis
    superpathway of cholesterol biosynthesis0.85
    superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)0.00
    mevalonate pathway I0.00


    Find genes that share SuperPaths with HADHB           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    Selected BioSystems Pathways for HADHB (see all 13)
        SIDS Susceptibility Pathways
    isoleucine degradation I
    glutaryl-CoA degradation
    Fatty Acid Beta Oxidation
    ketogenesis


    Selected Reactome Pathways for HADHB (see all 8)
        mitochondrial fatty acid beta-oxidation of unsaturated fatty acids
    Acyl chain remodeling of CL
    Beta oxidation of myristoyl-CoA to lauroyl-CoA
    Beta oxidation of palmitoyl-CoA to myristoyl-CoA
    Beta oxidation of hexanoyl-CoA to butanoyl-CoA


    5 Kegg Pathways  (Kegg details for HADHB):
        Fatty acid elongation
    Fatty acid degradation
    Valine, leucine and isoleucine degradation
    Metabolic pathways
    Fatty acid metabolism

    UniProtKB/Swiss-Prot: ECHB_HUMAN, P55084
    Pathway: Lipid metabolism; fatty acid beta-oxidation

        Pathway & Disease-focused RT2 Profiler PCR Arrays including HADHB: 

              Amino Acid Metabolism II in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for HADHB

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

    Selected Interacting proteins for HADHB (P550841, 2, 3 ENSP000003251364) via UniProtKB, MINT, STRING, and/or I2D (see all 93)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMN1Q166372, 3MINT-8271190 I2D: score=2 
    SMN2Q166372, 3MINT-8271190 I2D: score=2 
    GABARAPL1Q9H0R81, 3EBI-356635,EBI-746969 I2D: score=3 
    ANXA7P200732, 3MINT-8248439 I2D: score=2 
    CDKN1AP389362, 3MINT-8251948 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006635fatty acid beta-oxidation TAS--
    GO:0006644phospholipid metabolic process TAS--
    GO:0008152metabolic process ----
    GO:0035965cardiolipin acyl-chain remodeling TAS--
    GO:0044255cellular lipid metabolic process TAS--

    Find genes that share ontologies with HADHB           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HADHB (ECHB)

    Selected HMDB Compounds for HADHB (see all 58)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (2E)-Decenoyl-CoA(E)-S-2-decenoate Coenzyme A (see all 15)10018-95-8--
    (2E)-Dodecenoyl-CoA2-trans-Dodecenoyl-Coenzyme A (see all 4)1066-12-2--
    (2E)-Hexadecenoyl-CoAtrans-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--
    (3S)-3-Hydroxyadipyl-CoA(3S)-3-Hydroxyadipyl-CoEnzyme A ----
    2-Methylacetoacetyl-CoA2-Methyl-3-acetoacetyl-CoA (see all 10)6712-01-2--
    2-Methylbutyryl-CoA2-methylbutanoyl-CoA (see all 11)6712-02-3--
    2-Methylhexanoyl-CoA2-Methylhexanoyl-CoEnzyme A (see all 5)----
    3-Methylcrotonyl-CoA3-Methylbut-2-enoyl-CoA (see all 14)793193-48-3--

    Selected Novoseek inferred chemical compound relationships for HADHB gene (see all 29)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    3-ketopalmitoyl-coa 90.7 1 11356167 (1)
    i-bop 86.5 3 11055976 (3)
    thromboxane a2 84.3 25 17630727 (2), 11901221 (2), 15134434 (2), 10827090 (1) (see all 20)
    trimetazidine 81.1 8 11286307 (1), 15074774 (1), 14606990 (1), 15074776 (1) (see all 7)
    acyl-coa 78.6 20 9857175 (2), 1586963 (1), 7822275 (1), 16428307 (1) (see all 17)
    lignoceric acid 77.4 2 1680308 (1)
    thromboxane 75.7 18 16499875 (1), 12726995 (1), 16156795 (1), 18502100 (1) (see all 7)
    u46619 65.9 1 9694965 (1)
    acetoacetyl coa 63.5 2 18958860 (1), 7748356 (1)
    fatty acid 63.3 13 2181395 (1), 1331693 (1), 9605857 (1), 18690865 (1) (see all 13)



    Find genes that share compounds with HADHB           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for HADHB gene (3 alternative transcripts): 
    NM_000183.2  NM_001281512.1  NM_001281513.1  

    Unigene Cluster for HADHB:

    Hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
    Hs.515848  [show with all ESTs]
    Unigene Representative Sequence: AK095278
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000448743 ENST00000317799(uc010yku.1 uc002rgz.3 uc010ykv.2 uc010ykw.2 uc010ykx.2)
    ENST00000479347 ENST00000405867 ENST00000425035 ENST00000412805 ENST00000494615
    ENST00000537713 ENST00000545822
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat HADHB using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HADHB (see all 11):
    hsa-miR-3685 hsa-miR-203 hsa-miR-4317 hsa-miR-520d-5p hsa-miR-605 hsa-miR-33a hsa-miR-670 hsa-miR-524-5p
    SwitchGear 3'UTR luciferase reporter plasmidHADHB 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for HADHB
    Predesigned siRNA for gene silencing in human, mouse, rat HADHB
    Clone
    Products:
         
    OriGene clones in human, mouse for HADHB (see all 7)
    OriGene ORF clones in mouse, rat for HADHB
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HADHB (NM_000183)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HADHB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HADHB
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for HADHB
    OriGene qSTAR qPCR primer pairs in human, mouse for HADHB
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HADHB
      QuantiTect SYBR Green Assays in human, mouse, rat HADHB
      QuantiFast Probe-based Assays in human, mouse, rat HADHB
    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-12361) for HADHB 

    Additional mRNA sequence: 

    AF113209.1 AK095278.1 AK130072.1 AK293142.1 AK302322.1 AK304455.1 AK314455.1 BC014572.1 
    BC017564.2 BC030824.1 BC066963.1 D16481.1 

    Selected 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.40116689  DT.422212  DT.86854232  DT.100736320  DT.91765294 

    Selected AceView cDNA sequences (see all 181):

    AI248438 NM_000183 AU136373 CR596000 AL531195 CB161327 BM473014 BX418605 
    BP379456 BX439508 CR597780 AL543521 CB160660 CR596672 AL557905 D16481 
    BU172467 BP357486 AL552314 CR598353 AU140049 BM759489 BP340775 AL545228 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HADHB (see all 8)    About this scheme

    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:                          -           -                 -     -                                                                           


    ECgene alternative splicing isoforms for HADHB

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HADHB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGATGTGTGG
    HADHB Expression
    About this image


    HADHB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 19) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Thoracic Perivascular Adipose
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    HADHB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HADHB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.515848
        Pathway & Disease-focused RT2 Profiler PCR Arrays including HADHB: 
              Amino Acid Metabolism II in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HADHB

    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for HADHB gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hadhb1 , 5 hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme more1, 5 88.94(n)1
    91.12(a)1
      5 (16.04 cM)5
    2310861  NM_145558.11  NP_663533.11 
     301552485 
    chicken
    (Gallus gallus)
    Aves HADHB1 hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA more 74.79(n)
    83.9(a)
      421995  XM_004935838.1  XP_004935895.1 
    lizard
    (Anolis carolinensis)
    Reptilia HADHB6
    hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiol...
    80(a)
    1 ↔ 1
    GL344141.1(3099-25240)
    African clawed frog
    (Xenopus laevis)
    Amphibia thiolase-prov2 hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme more 77.2(n)    BC045222.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb14g102 wufb14g10 76.99(n)   336606  BC046041.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Thiolase1 , 3 acetyl-CoA C-acyltransferase3
    Thiolase1
    67(a)3
    62.99(n)1
    68.92(a)1
      60A53
    377841  NM_058030.41  NP_477378.11 
    worm
    (Caenorhabditis elegans)
    Secernentea B0303.31 , 3 Acetyl-coa acetyltransferase3
    B0303.31
    61(a)3
    62.46(n)1
    62.39(a)1
      III(8758365-8759884)3
    1762161  NM_066514.41  NP_498915.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERG106
    Acetyl-CoA C-acetyltransferase (acetoacetyl-CoA th...
    33(a)
    1 → many
    XVI(498096-499292) YPL028W


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HADHB gene
    ACAT12  ACAA22  ACAT22  
    4 SIMAP similar genes for HADHB using alignment to 8 protein entries:     ECHB_HUMAN (see all proteins):
    ACAA1    ACAT1    ACAA2    ACAT2

    Find genes that share paralogs with HADHB           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for HADHB
    PGOHUM00000241174


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HADHB (see all 960)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0074944
    Trifunctional protein deficiency (TFP deficiency)4--see VAR_0074942 R H mis40--------
    VAR_0211324
    Trifunctional protein deficiency (TFP deficiency)4--see VAR_0211322 T P mis40--------
    VAR_0211284
    Trifunctional protein deficiency (TFP deficiency)4--see VAR_0211282 G D mis40--------
    VAR_0174094
    Trifunctional protein deficiency (TFP deficiency)4--see VAR_0174092 R K mis40--------
    VAR_0211354
    Trifunctional protein deficiency (TFP deficiency)4--see VAR_0211352 G D mis40--------
    VAR_0211314
    Trifunctional protein deficiency (TFP deficiency)4--see VAR_0211312 L P mis40--------
    VAR_0211304
    Trifunctional protein deficiency (TFP deficiency)4--see VAR_0211302 R G mis40--------
    VAR_0357054
    A breast cancer sample4--see VAR_0357052 A V mis40--------
    VAR_0074934
    Trifunctional protein deficiency (TFP deficiency)4--see VAR_0074932 R H mis40--------
    VAR_0211334
    Trifunctional protein deficiency (TFP deficiency)4--see VAR_0211332 D G mis40--------

    HapMap Linkage Disequilibrium report for HADHB (26466038 - 26513336 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for HADHB:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2719825CNV Deletion23290073
    esv1501344CNV Insertion17803354
    esv267941CNV Insertion20981092
    esv273638CNV Insertion20981092
    esv33316CNV Loss17666407

    Human Gene Mutation Database (HGMD): HADHB
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HADHB
    DNA2.0 Custom Variant and Variant Library Synthesis for HADHB

    (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

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    OMIM gene information: 143450   
    OMIM disorders: 609015  
    UniProtKB/Swiss-Prot: ECHB_HUMAN, P55084
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 8 diseases for HADHB:    
    About MalaCards
    mitochondrial trifunctional protein deficiency    trifunctional protein deficiency    peroxisomal disease    thiolase deficiency
    3-hydroxyacyl-coenzyme a dehydrogenase deficiency    d-bifunctional protein deficiency    abetalipoproteinemia    rhizomelic chondrodysplasia punctata


    Find genes that share disorders with HADHB           About GenesLikeMe

    Selected Novoseek inferred disease relationships for HADHB gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rhizomelic chondrodysplasia punctata, type 1 85.8 2 11734571 (1), 15060085 (1)
    chondrodysplasia punctata rhizomelic 80.6 1 8059925 (1)
    d-bifunctional protein deficiency 79.4 4 11734571 (1), 15060085 (1)
    zellweger syndrome 76.7 1 8463903 (1)
    peroxisomal disorders 74.1 2 8463903 (1), 7510868 (1)
    protein deficiency 71.9 2 17143551 (1), 9259266 (1)
    abetalipoproteinemia 71.2 2 19699128 (2)
    erythroleukemia 56.1 2 16499875 (1), 16156795 (1)
    adrenoleukodystrophy 50.8 3 2049396 (1), 11734571 (1), 15060085 (1)
    enzyme deficiency 48.3 1 7510868 (1)

    Genetic Association Database (GAD): HADHB
    Human Genome Epidemiology (HuGE) Navigator: HADHB (1 document)

    Export disorders for HADHB 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)
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    PubMed articles for HADHB gene, integrated from 10 sources (see all 166):
    (articles sorted by number of sources associating them with HADHB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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, 3, 9 Aoyama T....Fukushima Y. (Cytogenet. Cell Genet. 1997)
    2. Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency. (PubMed id 9259266)1, 2, 9 Orii K.E.... Hashimoto T. (Hum. Mol. Genet. 1997)
    3. Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients. (PubMed id 8163672)1, 2, 9 Kamijo T....Hashimoto T. (J. Clin. Invest. 1994)
    4. 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, 2, 9 Ushikubo S.... Hashimoto T. (Am. J. Hum. Genet. 1996)
    5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    6. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. 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)1, 2 Aboulaich N.... Vener A.V. (Biochem. J. 2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (Nat. Biotechnol. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    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)
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    Entrez Gene: 3032 HGNC: 4803 AceView: HADHB Ensembl:ENSG00000138029 euGenes: HUgn3032
    ECgene: HADHB Kegg: 3032 H-InvDB: HADHB

    (According to HUGE)
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      --

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

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    NameDescription
    PharmGKB entry for HADHB Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HADHB[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HADHB gene:
    Search GeneIP for patents involving HADHB

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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