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HAO1 Gene

protein-coding   GIFtS: 57

GC20M007811
hydroxyacid oxidase (glycolate oxidase) 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: GOX1)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
EC 1.1.3.15 3
GOX 1, 2, 3
GOX1 2, 3, 5
HAOX1 2, 3
MGC142225 2
MGC142227 2
OTTHUMP00000030231 2
Descriptions
(S)-2-hydroxy-acid oxidase 2
Glycolate oxidase 2, 3
hydroxyacid oxidase (glycolate oxidase) 1 2
hydroxyacid oxidase 1 2
External Ids
HGNC: 48091
Entrez Gene: 543632
UniProtKB: Q9UJM83
Ensembl: ENSG000001013237
Search outside databases for aliases for HAO1 gene

Previous GC identifers: GC20M007851 GC20M007858

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for HAO1:
This gene is one of three related genes that have 2-hydroxyacid oxidase activity yet differ in
encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular
location of the encoded protein is the peroxisome. Specifically, this gene is expressed primarily
in liver and pancreas and the encoded protein is most active on glycolate, a two-carbon substrate.
The protein is also active on 2-hydroxy fatty acids. The transcript detected at high levels in
pancreas may represent an alternatively spliced form or the use of a multiple near-consensus
upstream polyadenylation site. [provided by RefSeq]

UniProtKB/Swiss-Prot: HAOX1_HUMAN, Q9UJM8
Function: Has 2-hydroxyacid oxidase activity. Most active on the 2-carbon substrate glycolate, but
is also active on 2-hydroxy fatty acids

(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 HAO1 gene  

Entrez Gene cytogenetic band: 20p12   Ensembl cytogenetic band:  20p12.3   HGNC cytogenetic band: 20p12

HAO1 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 20         GeneLoc Exon Structure

GeneLoc location for GC20M007811:     (about GC identifiers)

Start:
7,811,631 bp from pter
End:
7,869,093 bp from pter
Size:
57,463 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000020.9  NT_011387.8  
(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)
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UniProtKB/Swiss-Prot: HAOX1_HUMAN, Q9UJM8 (See protein sequence)
Recommended Name: Hydroxyacid oxidase 1  
Size: 370 amino acids; 40924 Da
Cofactor: FMN
Subcellular location: Peroxisome
PDB structures from and Proteopedia :
2NZL (3D)    2RDT (3D)    2RDU (3D)    2RDW (3D)    
Secondary accessions: Q14CQ0 Q9UPZ0 Q9Y3I7

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_060015.1  

    ENSEMBL proteins: 
    ENSP00000368066 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
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    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (HAO1)
    Human Recombinant Proteins from Abnova (HAO1)
                  OriGene Purified Recombinant Human Protein: HAO1 

    1 Gene Ontology (GO) cellular component term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005777 peroxisome TAS10777549
    About this table

    Antibodies for HAO1: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for HAO1
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (HAO1), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (HAO1)
    Novus Biologicals Antibody for HAO1

    Assays for HAO1: 
    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

    5 InterPro domains/families:
     IPR013785 Aldolase_TIM
     IPR017934 FMN-dep_OHA_DH
     IPR012133 a-Hydoxy_acid_DH_FMN
     IPR008259 FMN_hydac_DH_AS
     IPR000262 FMN-dep_DH


       GeneDecks  HAO1 for the domains selected above  
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    Graphical View of Domain Structure for InterPro Entry Q9UJM8

    ProtoNet protein and cluster: Q9UJM8

    1 Blocks protein family: IPB000262 FMN-dependent alpha-hydroxy acid dehydrogenase

    UniProtKB/Swiss-Prot: HAOX1_HUMAN, Q9UJM8
    Similarity: Belongs to the FMN-dependent alpha-hydroxy acid dehydrogenase family
    Similarity: Contains 1 FMN hydroxy acid dehydrogenase domain

    (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 (HAO1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_017545

                  Applied Biosystems Silencer® siRNAs for HAO1

                  Sigma-Aldrich siRNA and siRNA Panels for HAO1  
                         Sigma-Aldrich shRNA for HAO1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_017545
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_017545
                                     untagged cDNA clone in CMV expression vector: NM_017545 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_017545

    UniProtKB/Swiss-Prot: HAOX1_HUMAN, Q9UJM8
    Function: Has 2-hydroxyacid oxidase activity. Most active on the 2-carbon substrate glycolate, but
    is also active on 2-hydroxy fatty acids
    Catalytic activity: (S)-2-hydroxy acid + O(2) = 2-oxo acid + H(2)O(2)
    Enzyme Number (IUBMB): EC 1.1.3.15 

    Genatlas biochemistry entry for HAO1:
    hydroxyacid oxidase 1,glycolate oxidase

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003973 (S)-2-hydroxy-acid oxidase activity TAS10777549
    GO:0009055 electron carrier activity IEA--
    GO:0010181 FMN binding IEA--
    GO:0016491 oxidoreductase 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

    1 Invitrogen iPath™ Online BioAtlas - Pathway for HAO1 (Maps provided by GeneGo):
     Alanine, serine, cysteine, threonine and glycine metabolism

       GeneDecks  HAO1 for the pathways selected above  
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    1 Sigma-Aldrich "Your Favorite Gene" Pathway for  HAO1  (Your Favorite Gene powered by Ingenuity) 
     Glyoxylate and Dicarboxylate Metabolism

       GeneDecks  HAO1 for the pathways selected above  
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    1 Kegg Pathway  (Kegg details for HAO1):
     hsa00630 Glyoxylate and dicarboxylate metabolism

       GeneDecks  HAO1 for the pathways selected above  
    About GeneDecksing
    UniProtKB/Swiss-Prot: HAOX1_HUMAN, Q9UJM8
    Pathway: Organic acid metabolism; glycolic acid degradation; 3-phospho-D-glyceric acid from
    glycolic acid: step 1/4


    5/6 Interacting proteins for HAO1 (ENSP000003680663) via UniProtKB, MINT, and/or STRING (see all 6 )

    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGXTENSP000003026203STRING (score=.962)
    DAOENSP000002284763STRING (score=.926)
    HAO2ENSP000003584283STRING (score=.819)
    AGXT2ENSP000002314203STRING (score=.8)
    CATENSP000002410523STRING (score=.744)
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001561 fatty acid alpha-oxidation TAS10777549
    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 HAO1
    10/34 Novoseek chemical compound relationships for HAO1 gene (see all 34 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    nafion 82.60 9 16275055 (1), 15967398 (1), 19071561 (1), 16219381 (1) (see all 7)
    glucose 81.09 395 17365439 (5), 16870421 (3), 19269439 (3), 17113278 (3) (see all 99)
    poly(dimethyl diallyl ammonium chloride) 79.80 7 18180205 (2), 16430853 (1), 16207046 (1), 17314038 (1)
    agcl 78.41 1 15649080 (1)
    polyvinylimidazole 77.44 2 14516076 (1), 15794489 (1)
    fadh2 76.98 8 15461503 (2), 12622383 (1), 15970532 (1), 15649080 (1)
    ferrocenemethanol 76.64 1 16471810 (1)
    ethylene glycol diglycidyl ether 73.15 2 7733469 (1)
    platinum 70.53 16 9491756 (1), 19112013 (1), 15284922 (1), 15283600 (1) (see all 11)
    ferrocene 66.48 15 8797376 (2), 12298004 (2), 11411531 (2), 7810897 (2) (see all 7)
    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 (HAO1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_017545

                  Sigma-Aldrich siRNA and siRNA Panels for HAO1  
                         Sigma-Aldrich shRNA for HAO1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_017545  

    REFSEQ mRNAs for HAO1 gene: 

    NM_017545.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_017545  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_017545
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_017545
                                     untagged cDNA clone in CMV expression vector: NM_017545 

    Additional cDNA sequence: 

    AB024079.1 AF231916.1 AF244134.1 AK289423.1 AK308963.1 AK313839.1 AL121739.1 BC113665.1 
    BC113667.1 

    2 DOTS entries:

    DT.105299  DT.99965022 

    24/28 AceView cDNA sequences (see all 28 ):

    NM_017545 CB161531 AB024079 AL121739 AI913732 C20914 AF244134 BG656034 
    AF231916 AV646933 BG568066 H70488 AV647445 CB163751 BX094967 AW772047 
    AV682372 AL449681 H69642 BG656337 T72614 T97636 T97637 AL449669 

    highest scoring ESTs for HAO1:

    AB024079 AF231916 AF244134 AI913732 AL121739 AL449668 AL449669 AL449681 T58830 T64673 

    Unigene Cluster for HAO1:

    Hydroxyacid oxidase (glycolate oxidase) 1
    Hs.193640  [show with all ESTs]
    Unigene Representative Sequence: AL121739


    GeneLoc Exon Structure

    1 Ensembl transcript including schematic representation:
    ENST00000378789  
    (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

    HAO1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for HAO1

    1 / 2 / 3

    4 probe-sets matching HAO1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    60957_at2, 3 U95-C 1 1.00 1.00 0.99 1.03 AI913732 0.80 1.00 0.91 1
    35891_at2, 3 U95-A 1 1.00 1.00 0.98 1.03 AB024079 1.00 1.00 1.00 1

    220224_at2, 3 U133-A 1 1.00 1.00 -- -- NM_017545 0.60 1.00 0.82 1

    220224_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  HAO1 for binary patterns associated with the probe-sets selected above  
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    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TCTTTAAAAC

    SOURCE GeneReport for Unigene cluster: Hs.193640

    UniProtKB/Swiss-Prot: HAOX1_HUMAN, Q9UJM8
    Tissue specificity: Liver

    (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 HAO1 gene from 5/20 species (see all 20 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    HAO11   -- hydroxyacid oxidase (glycolate oxidase) 1 87.39(n)
    88.11(a)
    485774  XM_854694.1  XP_859787.1 
    chimpanzee
    (Pan troglodytes)
    HAO11   -- hydroxyacid oxidase (glycolate oxidase) 1 99.46(n)
    100(a)
    747888  XM_001167611.1  XP_001167611.1 
    cow
    (Bos taurus)
    HAO11   -- hydroxyacid oxidase (glycolate oxidase) 1 89.01(n)
    92.16(a)
    533957  XM_613535.3  XP_613535.2 
    rat
    (Rattus norvegicus)
    Hao11   -- hydroxyacid oxidase 1, liver 85.86(n)
    89.46(a)
    311446  XM_230613.4  XP_230613.2 
    mouse
    (Mus musculus)
    Hao11, 5 2 (80.00 cM)5
    hydroxyacid oxidase 1, liver1, 5 87.12(n)1
    89.46(a)1
    151121  NM_010403.21  NP_034533.11 
     AF1043125  AI1958655  (see all 10)
    About this table        Species with no ortholog for HAO1

    ENSEMBL Gene Tree for HAO1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for HAO1 gene
    HAO22  

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


    10/421 NCBI SNPs in HAO1 are shown (see all 421 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 178)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 20 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs97535681,2
    A,C,F,H7869216(+) CATCAA/GGTGAG 1 -- ng31 tfbs37Minor allele frequency- G:0.01EU EA WA NA 562
    rs60553631,2
    A,C,F,H7811543(+) TAACCA/GATAAG 1 -- ng518Minor allele frequency- G:0.22EU EA WA 838
    rs60862901,2
    A,C,F,H7871092(+) ATTCCA/GACCAC 1 -- ng317Minor allele frequency- G:0.11EU EA WA NA 560
    rs61404681,2
    A,C,F,H7870551(+) TACCAT/CTAAtt 1 -- ng31 tfbs34Minor allele frequency- C:0.45EU EA WA 398
    rs126248171,2
    A,C,F,H7870861(+) ggccTA/CCCACT 1 -- ng317Minor allele frequency- C:0.14EU EA WA NA 554
    --
    rs61335161,2
    A,C,F,H7869591(+) GCATCC/TGTGAA 1 -- ng317Minor allele frequency- T:0.42EU EA WA NA 548
    rs169942121,2
    C,F,H7870919(+) ATTCCA/GAAAGA 1 -- ng3111Minor allele frequency- G:0.16NA EU EA WA 980
    --
    rs37479261,2
    A,C7811999(+) GTTTTA/CTTTTT 1 -- ut31 trp30--------
    --
    rs61404671,2
    A,C7870494(+) tgtgtA/Gtatat 1 -- ng310--------
    --
    rs126255751,2
    A,C7870492(+) attgtA/Gtgtat 1 -- ng310--------
    About this table

    HapMap Linkage Disequilibrium images for HAO1 (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: 605023

    1 Novoseek disease relationship for HAO1 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypoglycemia 0.00 1 17365439 (1)
    About this table

    (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

    10/180 PubMed articles for HAO1 gene (see all 180 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    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: 54363 HGNC: 4809 AceView: HAO1 Ensembl:ENSG00000101323 euGenes: HUgn54363
    ECgene: HAO1 H-InvDB: HAO1
    (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

      --
    (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 HAO1:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for HAO1 Antibodies for HAO1
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for HAO1 Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Tagged/untagged cDNA clones
     Validated SYBR primer pairs
     Purified proteins from HEK293T cells
     Western blot validated antibodies
     shRNA in GFP-retroviral vector
     Search Tocris compounds for HAO1




     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for HAO1

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