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KHK Gene

protein-coding   GIFtS: 59

GC02P027221
ketohexokinase (fructokinase)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
EC 2.7.1.3 3
ketohexokinase 2
Descriptions
Hepatic fructokinase 3
ketohexokinase (fructokinase) 2
External Ids
HGNC: 63151
Entrez Gene: 37952
UniProtKB: P500533
Ensembl: ENSG000001380307
Search outside databases for aliases for KHK gene

Previous GC identifers: GC02P027231 GC02P027402 GC02P027267 GC02P027284

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

EntrezGene summary for KHK:
This gene encodes ketohexokinase that catalyzes conversion of fructose to fructose-1-phosphate. The
product of this gene is the first enzyme with a specialized pathway that catabolizes dietary
fructose. Alternatively spliced transcript variants encoding different isoforms have been
identified. [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)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the KHK gene  

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

KHK 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 GC02P027221:     (about GC identifiers)

Start:
27,163,115 bp from pter
End:
27,177,123 bp from pter
Size:
14,009 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)
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UniProtKB/Swiss-Prot: KHK_HUMAN, P50053 (See protein sequence)
Recommended Name: Ketohexokinase  
Size: 298 amino acids; 32730 Da
Subunit: Dimer of A-A, A-C or C-C (Probable)
Caution: Form C has not yet been fully sequenced in its N-terminal (from 1-69)
PDB structures from and Proteopedia :
2HLZ (3D)    2HQQ (3D)    2HW1 (3D)    3B3L (3D)    
Secondary accessions: Q99532 Q9BRJ3 Q9UMN1
Alternative splicing: 2 isoforms:  P50053-1   P50053-2   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_000212.1  NP_006479.1  


    ENSEMBL proteins: 
    ENSP00000260599 ENSP00000260598 


    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 (ketohexokinase)
    Human Recombinant Proteins from Abnova (KHK)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737 cytoplasm IDA11256614 18029348
    About this table

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

    Assays for KHK: 
    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

    2 InterPro domains/families:
     IPR011611 Carb/pur_kinase
     IPR002173 Carboh/pur_kinase_PfkB_CS


       GeneDecks  KHK for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P50053

    ProtoNet protein and cluster: P50053

    1 Blocks protein family: IPB002173 Carbohydrate kinase

    UniProtKB/Swiss-Prot: KHK_HUMAN, P50053
    Similarity: Belongs to the carbohydrate kinase pfkB 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 (KHK)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (KHK)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_006488

                  Applied Biosystems Silencer® siRNAs for KHK

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

    Clones:Invitrogen Clones for KHK
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000221
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000221
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_000221 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_000221

    UniProtKB/Swiss-Prot: KHK_HUMAN, P50053
    Catalytic activity: ATP + D-fructose = ADP + D-fructose 1-phosphate
    Enzyme regulation: Requires potassium. Inhibition by ADP
    Enzyme Number (IUBMB): EC 2.7.1.3 

    Genatlas biochemistry entry for KHK:
    ketohexokinase,fructose metabolism,energy pathway,expressed in liver,renal cortex and small
    intestine

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004454 ketohexokinase activity TAS7833921
    GO:0005515 protein binding IPI17353931
    GO:0016301 kinase 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

    2 Invitrogen iPath™ Online BioAtlas - Pathways for KHK (Maps provided by GeneGo):
     Glycolysis and gluconeogenesis
     Fructose metabolism

       GeneDecks  KHK for the pathways selected above  
    About GeneDecksing

    1 Sigma-Aldrich "Your Favorite Gene" Pathway for  KHK  (Your Favorite Gene powered by Ingenuity) 
     Fructose and Mannose Metabolism

       GeneDecks  KHK for the pathways selected above  
    About GeneDecksing

    1 Kegg Pathway  (Kegg details for KHK):
     hsa00051 Fructose and mannose metabolism

       GeneDecks  KHK for the pathways selected above  
    About GeneDecksing
    UniProtKB/Swiss-Prot: KHK_HUMAN, P50053
    Pathway: Carbohydrate metabolism; fructose metabolism


    5/22 Interacting proteins for KHK (ENSP000002605993 P500531) via UniProtKB, MINT, and/or STRING (see all 22 )

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARRB1P494071EBI-1053974, EBI-743313
    CD2BP2O954001EBI-1053974, EBI-768015
    CDK5RAP3Q96JB51EBI-1053974, EBI-718818
    DEDDO756181EBI-1053974, EBI-1043164
    LCN1P310251EBI-1053974, EBI-1052433
    About this table

    1 Gene Ontology (GO) biological process term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975 carbohydrate 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 KHK
    3 Novoseek chemical compound relationships for KHK gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    fructose 1-phosphate 93.94 9 16372272 (1), 11264590 (1), 17510913 (1), 19237742 (1)
    fructose 83.16 29 19158351 (3), 11264590 (2), 18395287 (2), 19237742 (2) (see all 10)
    atp 27.18 4 19158351 (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 (KHK)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (KHK)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_006488

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

    Applied Biosystems Silencer® siRNAs: 

    NM_000221  NM_006488  

    REFSEQ mRNAs for KHK gene (2 alternative transcripts): 

    NM_000221.2   NM_006488.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000221  NM_006488  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000221
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000221
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_000221 

    Additional cDNA sequence: 

    AK130033.1 AK223075.1 BC006233.2 BX648873.1 CR456801.1 CR591043.1 CR600808.1 CR603641.1 
    CR604516.1 CR608955.1 CR610051.1 CR612248.1 CR617023.1 CR618568.1 CR622392.1 CR622479.1 
    CR625259.1 X78677.1 X78678.1 

    6 DOTS entries:

    DT.447396  DT.97794122  DT.100839952  DT.95104826  DT.95104793  DT.95104795 

    24/168 AceView cDNA sequences (see all 168 ):

    AA342313 CB154910 CB137744 BM745791 CR600808 CR622479 BQ893175 CB148802 
    CR617023 CR610051 BM695404 CR622392 CB141195 NM_006488 CB148825 BM753815 
    CB148820 CB148348 AI347475 BQ064138 X78678 CB139063 CR625259 CR591043 

    highest scoring ESTs for KHK:

    X78678 AA342313 AA714633 AA714645 AA858018 AI056782 AI078198 AI085406 AI245267 AI247727 

    Unigene Cluster for KHK:

    Ketohexokinase (fructokinase)
    Hs.567297  [show with all ESTs]
    Unigene Representative Sequence: NM_000221


    GeneLoc Exon Structure

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

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b · 9c
    SP1:                                      -           -     -                                                         
    SP2:                                      -     -     -                                                               
    SP3:                                -     -     -     -     -                                                         
    SP4:                                      -           -                                                               
    SP5:                                      -           -     -                                                         

    About this scheme

    ECgene alternative splicing isoforms for KHK

    2 Ensembl transcripts including schematic representations:
    ENST00000260599  ENST00000260598  
    (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

    KHK expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for KHK

    1 / 2 / 3

    7 probe-sets matching KHK gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    37608_g_at2, 3 U95-A 1 1.00 1.00 0.98 1.28 AJ005168 0.20 1.00 0.72 1
    37606_at2, 3 U95-A 1 1.00 1.00 0.98 0.74 X78678 1.00 1.00 1.00 1

    37607_at*2, 3 U95-A 1 -- -- 0.14 0.32 AJ005168 0.20 1.00 0.72 1

    211028_s_at2, 3 U133-A 1 1.00 1.00 -- -- BC006233 0.80 1.00 0.91 1

    205175_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000221 0.60 1.00 0.82 1

    211028_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    205175_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  KHK for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.567297

    Expression variation in blood from EXPOLDB for KHK

    UniProtKB/Swiss-Prot: KHK_HUMAN, P50053
    Tissue specificity: Most abundant in liver, kidney, gut, spleen and pancreas. Low levels also found
    in adrenal, muscle, brain and eye

    (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 KHK gene from 5/6 species (see all 6 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    cow
    (Bos taurus)
    KHK1   -- ketohexokinase (fructokinase) 87.36(n)
    88.26(a)
    614868  NM_001076351.1  NP_001069819.1 
    rat
    (Rattus norvegicus)
    Khk1   -- ketohexokinase 87.25(n)
    86.58(a)
    25659  NM_031855.2  NP_114061.1 
    mouse
    (Mus musculus)
    Khk1, 5 5 (18.10 cM)5
    ketohexokinase1, 5 86.58(n)1
    87.25(a)1
    165481  NM_008439.31  NP_032465.21 
     AK0083265  AK0085035  (see all 7)
    zebrafish
    (Danio rerio)
    khk1   -- ketohexokinase 64.09(n)
    62.75(a)
    436909  NM_001002636.1  NP_001002636.1 
    fruit fly
    (Drosophila melanogaster)
    CG73283 76F2 ketohexokinase 35(a)
    (best of 2)
      --
    About this table        Species with no ortholog for KHK

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

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


    10/69 NCBI SNPs in KHK are shown (see all 69 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 44)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 2 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs23046811,2
    C,F,H27168756(+) GCACCG/ATTCTC 2 I/V mis113Minor allele frequency- A:0.26EA EU WA 2744
    rs75883331,2
    A,C,F,H27165775(+) CAGGGG/CAACAG 2 -- int14Minor allele frequency- C:0.04EU EA WA 406
    rs21190261,2
    A,C,F,H27163897(-) CCTTCT/CTCTCT 2 -- int1 trp34Minor allele frequency- C:0.46EU EA WA 418
    rs127140921,2
    A,C,F,H27168386(+) AGGAGG/AAGATG 2 -- int1 trp34Minor allele frequency- A:0.25EU EA WA 412
    --
    rs46659441,2
    A,C,F,H27175391(+) agaccA/Gtcttc 2 -- int14Minor allele frequency- G:0.02EU EA WA 420
    rs67543711,2
    A,C,F27168568(+) GCCCCA/GGGTAC 2 -- int13Minor allele frequency- G:0.44NA 124
    rs37691391,2
    C,F,H27169218(+) CCAGGT/CCCACA 2 -- int112Minor allele frequency- C:0.42EU EA WA NA 1200
    rs96777841,2
    A,C,H27173330(+) GTGAGG/AAAACT 2 -- int14Minor allele frequency- A:0.00EU EA WA 420
    rs20758621,2
    C,F,H27173782(+) CCTCTC/ACCTCC 2 -- int1 trp35Minor allele frequency- A:0.08EA EU WA 1920
    rs75611171,2
    F,H27165936(+) GATGGG/AGCAGG 2 -- int14Minor allele frequency- A:0.02EU EA WA 418
    About this table

    HapMap Linkage Disequilibrium images for KHK (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: 229800

    UniProtKB/Swiss-Prot: KHK_HUMAN, P50053

  • Defects in KHK are the cause of fructosuria [MIM:229800]. Fructosuria is a benign defect
    of intermediary metabolism
  • 3 Novoseek disease relationships for KHK gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoma renal cell 27.61 1 16372272 (1)
    cancer 0.00 1 16372272 (1)
    tumors 0.00 2 16372272 (2)
    About this table

    Genatlas disease: KHK
    fructosuria

    Human Gene Mutation Database: KHK

    (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

    10/29 PubMed articles for KHK gene (see all 29 ):
    (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: 3795 HGNC: 6315 AceView: KHK Ensembl:ENSG00000138030 euGenes: HUgn3795
    ECgene: KHK H-InvDB: KHK
    (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 KHK:
     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 KHK-related products

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     Millipore Preclinical / Clinical Development Services
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     Predesigned and custom siRNAs for KHK Antibodies for KHK
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for KHK Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Antibodies for KHK

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