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AMPD1 Gene

protein-coding   GIFtS: 65

GC01M114927
adenosine monophosphate deaminase 1 (isoform M)
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 3.5.4.6 3
MAD 1, 2
MADA 1, 2
OTTHUMP00000013665 2
OTTHUMP00000059283 2
Descriptions
AMP deaminase isoform M 3
Myoadenylate deaminase 3
adenosine monophosphate deaminase 1 (isoform M) 2
adenosine monophosphate deaminase-1 (muscle) 2
External Ids
HGNC: 4681
Entrez Gene: 2702
UniProtKB: P231093
Ensembl: ENSG000001167487
Search outside databases for aliases for AMPD1 gene

Previous GC identifers: GC01M115629 GC01M114097 GC01M114315 GC01M114514

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for AMPD1:
Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and
plays an important role in the purine nucleotide cycle. Two other genes have been identified,
AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the
muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the
most common cause of metabolic myopathy in the human. [provided by RefSeq]

UniProtKB/Swiss-Prot: AMPD1_HUMAN, P23109
Function: AMP deaminase plays a critical role in energy metabolism

Gene Wiki entry for AMPD1 (AMP_deaminase)

(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 AMPD1 gene  

Entrez Gene cytogenetic band: 1p13   Ensembl cytogenetic band:  1p13.2   HGNC cytogenetic band: 1p13

AMPD1 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 1         GeneLoc Exon Structure

GeneLoc location for GC01M114927:     (about GC identifiers)

Start:
115,017,240 bp from pter
End:
115,039,762 bp from pter
Size:
22,523 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000001.9  NT_019273.18  
(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: AMPD1_HUMAN, P23109 (See protein sequence)
Recommended Name: AMP deaminase 1  
Size: 747 amino acids; 86490 Da
Subunit: Homotetramer
Secondary accessions: Q5TF00

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_000027.1  

    ENSEMBL proteins: 
    ENSP00000358551 ENSP00000316520 ENSP00000376950 ENSP00000376949 


    Human Recombinant Proteins 
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (AMPD1)
    Human Recombinant Proteins from Abnova (AMPD1)
                  OriGene Purified Recombinant Human Protein: AMPD1 


    Antibodies for AMPD1: 
    Browse Antibodies Central at Invitrogen
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    Sigma-Aldrich Antibodies for AMPD1
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (AMPD1), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (AMPD1)
    Novus Biologicals Antibody for AMPD1

    Assays for AMPD1: 
    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

    4 InterPro domains/families:
     IPR001365 A/AMP_deaminase
     IPR016297 AMP_deaminase_met
     IPR006329 AMP_deaminase
     IPR006650 A/AMP_deam_AS


       GeneDecks  AMPD1 for the domains selected above  
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    Graphical View of Domain Structure for InterPro Entry P23109

    ProtoNet protein and cluster: P23109

    1 Blocks protein family: IPB006650 Adenosine/AMP deaminase active site

    UniProtKB/Swiss-Prot: AMPD1_HUMAN, P23109
    Similarity: Belongs to the adenosine and AMP deaminases 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 (AMPD1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000036

                  Applied Biosystems Silencer® siRNAs for AMPD1

                  Sigma-Aldrich siRNA and siRNA Panels for AMPD1  
                         Sigma-Aldrich shRNA for AMPD1  
                         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_000036
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000036
                                     untagged cDNA clone in CMV expression vector: NM_000036 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_000036

    UniProtKB/Swiss-Prot: AMPD1_HUMAN, P23109
    Function: AMP deaminase plays a critical role in energy metabolism
    Catalytic activity: AMP + H(2)O = IMP + NH(3)
    Enzyme Number (IUBMB): EC 3.5.4.6 

    Genatlas biochemistry entry for AMPD1:
    adenosine monophosphate deaminase 1 (isoform M,skeletal muscle),adenine nucleotide catabolic
    pathway,purine nucleotide cycle

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003876 AMP deaminase activity TAS644316
    GO:0016787 hydrolase 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 AMPD1 (Maps provided by GeneGo):
     Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis
     ATP/ITP metabolism

       GeneDecks  AMPD1 for the pathways selected above  
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    2 Millipore Pathways for AMPD1
     Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis
     ATP/ITP metabolism

       GeneDecks  AMPD1 for the pathways selected above  
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    1 Sigma-Aldrich "Your Favorite Gene" Pathway for  AMPD1  (Your Favorite Gene powered by Ingenuity) 
     Purine Metabolism

       GeneDecks  AMPD1 for the pathways selected above  
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    1 Kegg Pathway  (Kegg details for AMPD1):
     hsa00230 Purine metabolism

       GeneDecks  AMPD1 for the pathways selected above  
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    UniProtKB/Swiss-Prot: AMPD1_HUMAN, P23109
    Pathway: Purine metabolism; IMP biosynthesis via salvage pathway; IMP from AMP: step 1/1


    5/57 Interacting proteins for AMPD1 (ENSP000003585513) via UniProtKB, MINT, and/or STRING (see all 57 )

    InteractantInteraction Details
    GeneCardExternal ID(s)
    NT5C1AENSP000002356283STRING (score=.955)
    ADKENSP000002866213STRING (score=.952)
    ADSSENSP000003554933STRING (score=.952)
    ADSLENSP000002161943STRING (score=.951)
    AK1ENSP000002238363STRING (score=.95)
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006144 purine base metabolic process IEA--
    GO:0009117 nucleotide metabolic process IEA--
    GO:0009168 purine ribonucleoside monophosphate biosynthetic 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 AMPD1
    5 Novoseek chemical compound relationships for AMPD1 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    ampd 91.59 5 17463303 (2), 7802626 (2)
    inosine monophosphate 40.35 1 15793265 (1)
    atp 13.74 8 9730972 (3), 7802626 (2), 18224333 (1), 11408438 (1)
    oxygen 0.00 1 17687759 (1)
    glucose 0.00 5 17565237 (1), 18855224 (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 (AMPD1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000036

                  Sigma-Aldrich siRNA and siRNA Panels for AMPD1  
                         Sigma-Aldrich shRNA for AMPD1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_000036  

    REFSEQ mRNAs for AMPD1 gene: 

    NM_000036.1   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000036  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000036
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000036
                                     untagged cDNA clone in CMV expression vector: NM_000036 

    Additional cDNA sequence: 

    AK097077.1 AK291349.1 AK314252.1 BC056678.1 M60092.1 

    3 DOTS entries:

    DT.91872456  DT.411811  DT.91811224 

    24/358 AceView cDNA sequences (see all 358 ):

    BM725933 BU735103 BU155332 CD365237 BM794628 BX283953 NM_005872 BG429612 
    AA808494 AA351970 BX499618 CB138859 CD678348 BM796399 BX105646 BG030450 
    AA719669 AI015700 BM700009 BU678635 AB020623 AI051051 AW083722 AW072129 

    highest scoring ESTs for AMPD1:

    M60092 AK097077 BC056678 BF574797 BX500639 BX500792 BX500838 AI369551 DA014671 DA764180 

    Unigene Cluster for AMPD1:

    Adenosine monophosphate deaminase 1 (isoform M)
    Hs.89570  [show with all ESTs]
    Unigene Representative Sequence: AK097077


    GeneLoc Exon Structure

    4 Ensembl transcripts including schematic representations:
    ENST00000369538  ENST00000353928  ENST00000393268  ENST00000393267  
    (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

    AMPD1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for AMPD1

    1 / 2 / 3

    3 probe-sets matching AMPD1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    40743_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 M60092 1.00 0.87 0.94 1

    206121_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000036 0.60 0.78 0.69 1

    206121_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  AMPD1 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: GCCTATCGCT

    SOURCE GeneReport for Unigene cluster: Hs.89570

    Expression variation in blood from EXPOLDB for AMPD1

    UniProtKB/Swiss-Prot: AMPD1_HUMAN, P23109
    Tissue specificity: Three isoforms are present in mammals: AMP deaminase 1 is the predominant form
    in skeletal muscle; AMP deaminase 2 predominates in smooth muscle, non-muscle tissue, embryonic
    muscle and undifferentiated myoblasts; AMP deaminase 3 is found in erythrocytes

    (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 AMPD1 gene from 5/7 species (see all 7 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    AMPD11   -- adenosine monophosphate deaminase 1 (isoform M) 91.12(n)
    93.84(a)
    606901  XM_843443.1  XP_848536.1 
    chimpanzee
    (Pan troglodytes)
    AMPD11   -- adenosine monophosphate deaminase 1 (isoform M) 99.73(n)
    99.6(a)
    457144  XM_513671.2  XP_513671.2 
    cow
    (Bos taurus)
    AMPD11   -- adenosine monophosphate deaminase 1 (isoform M) 91.48(n)
    93.44(a)
    512748  XM_001250310.1  XP_001250311.1 
    rat
    (Rattus norvegicus)
    Ampd11   -- adenosine monophosphate deaminase 1 (isoform M) 87.06(n)
    92.77(a)
    25028  NM_138876.1  NP_620231.1 
    mouse
    (Mus musculus)
    Ampd11, 5 3 (48.50 cM)5
    adenosine monophosphate deaminase 1 (isoform M)1, 5 88.23(n)1
    93.02(a)1
    2296651  NM_001033303.21  NP_001028475.21 
     AI5535205  AK1325245  (see all 8)
    About this table        Species with no ortholog for AMPD1

    ENSEMBL Gene Tree for AMPD1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for AMPD1 gene
    AMPD32  AMPD22  

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


    10/124 NCBI SNPs in AMPD1 are shown (see all 124 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 49)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 1 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs9269381,2
    A,C,F,H,O115041339(-) GATCTC/TTGGGT 1 -- ng315Minor allele frequency- T:0.45MN EU EA WA 602
    --
    rs66672181,2
    A,C,F,H115040505(+) TGACTA/GTATAT 1 -- ng314Minor allele frequency- G:0.13EU EA WA 398
    rs115881441,2
    A,C,F,H115040878(+) TAGTTA/GCTGCT 1 -- ng3112Minor allele frequency- N:0.00EU EA WA NA 1038
    rs176027291,2
    C,F,H115037580(+) CTCACG/ATTTCT 1 X/Q non111Minor allele frequency- A:0.04NA EU EA WA 980
    rs125665501,2
    C,H115031047(+) GAAACG/ACTTTT 1 C/R mis14Minor allele frequency- A:0.00EU EA WA 406
    rs22732681,2
    C,H115032856(-) TTGCTG/AAAAAA 1 K/E mis14Minor allele frequency- A:0.00EU EA WA 416
    rs345261991,2
    C115023760(+) TGTTTT/ATCAGC 1 I/K mis11Minor allele frequency- A:0.02NA 44
    rs7617551,2
    A,C,F,H,O115023957(-) TCCAAT/CAATTA 1 -- int19Minor allele frequency- C:0.33EU EA WA 2310
    rs23363631,2
    A,C,F,H,O115034091(-) GAAAAG/ATATTA 1 -- int18Minor allele frequency- A:0.23EU EA WA NA 626
    rs22686971,2
    A,C,F,H,O115029016(+) GCTACA/GATGGA 1 -- int116Minor allele frequency- G:0.44EA NS EU WA NA 2602
    About this table

    HapMap Linkage Disequilibrium images for AMPD1 (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: 102770

    UniProtKB/Swiss-Prot: AMPD1_HUMAN, P23109

  • Defects in AMPD1 are the cause of adenosine monophosphate deaminase deficiency muscle type
    (AMPDDM) [MIM:102770]. AMPDDM is a metabolic disorder resulting in exercise-related myopathy. It
    is characterized by exercise-induced muscle aches, cramps, and early fatigue
  • 10/12 Novoseek disease relationships for AMPD1 gene (see all 12 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    mcardles disease 84.02 3 19232494 (1), 12666117 (1)
    myopathy 67.91 7 11102975 (2), 8486786 (1), 11408438 (1), 19258857 (1) (see all 5)
    rhabdomyolysis 62.86 1 1440976 (1)
    enzyme deficiency 42.25 1 9760316 (1)
    heart failure congestive 39.88 12 16996850 (3), 15135700 (2), 17452135 (1), 17452134 (1) (see all 7)
    heart failure 38.42 15 14499869 (3), 15239633 (2), 11028479 (1), 12448564 (1) (see all 9)
    neuromuscular diseases 36.17 1 15368811 (1)
    coronary artery disease 27.35 6 11028479 (1), 17376785 (1), 16875916 (1), 15882662 (1) (see all 5)
    cardiovascular diseases 9.49 3 17378808 (1), 18855224 (1)
    myocardial ischemia 6.45 5 14499869 (1), 12448564 (1), 16021915 (1)
    About this table

    Genatlas disease: AMPD1
    myopathy,exercise-related

    Human Gene Mutation Database: AMPD1
    Genetic Association Database: AMPD1
    Human Genome Epidemiology Navigator: AMPD1 (29 documents)

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

      --

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

    10/105 PubMed articles for AMPD1 gene (see all 105 ):
    (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: 270 HGNC: 468 AceView: AMPD1andBCAS2andFLJ37099 Ensembl:ENSG00000116748 euGenes: HUgn270
    ECgene: AMPD1 H-InvDB: AMPD1
    (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

    NameDescription
    GeneReviewshttp://www.genetests.org/query?gene=AMPD1
    (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 AMPD1:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for AMPD1 Antibodies for AMPD1
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     Lentivirus-delivered shRNAs for AMPD1 Browse small molecules at Sigma-Aldrich
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     shRNA in GFP-retroviral vector
     Search Tocris compounds for AMPD1




     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for AMPD1

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