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BLMH Gene

protein-coding   GIFtS: 66

GC17M025599
bleomycin hydrolase
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
BH 1, 2, 3
BMH 2, 3, 5
EC 3.4.22.40 3
Descriptions
BLM hydrolase 3
bleomycin hydrolase 2
External Ids
HGNC: 10591
Entrez Gene: 6422
UniProtKB: Q138673
Ensembl: ENSG000001085787
Search outside databases for aliases for BLMH gene

Previous GC identifers: GC17M028328 GC17M030481 GC17M028720

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for BLMH:
Bleomycin hydrolase (BMH) is a cytoplasmic cysteine peptidase that is highly conserved through
evolution; however, the only known activity of the enzyme is metabolic inactivation of the
glycopeptide bleomycin (BLM), an essential component of combination chemotherapy regimens for
cancer. The protein contains the signature active site residues of the cysteine protease papain
superfamily. [provided by RefSeq]

UniProtKB/Swiss-Prot: BLMH_HUMAN, Q13867
Function: The normal physiological role of BLM hydrolase is unknown, but it catalyzes the
inactivation of the antitumor drug BLM (a glycopeptide) by hydrolyzing the carboxamide bond of its
B-aminoalaninamide moiety thus protecting normal and malignant cells from BLM toxicity (By
similarity)

(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 BLMH gene  

Entrez Gene cytogenetic band: 17q11.2   Ensembl cytogenetic band:  17q11.2   HGNC cytogenetic band: 17q11.2

BLMH 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 17         GeneLoc Exon Structure

GeneLoc location for GC17M025599:     (about GC identifiers)

Start:
25,599,349 bp from pter
End:
25,643,204 bp from pter
Size:
43,856 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000017.9  NT_010799.14  
(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: BLMH_HUMAN, Q13867 (See protein sequence)
Recommended Name: Bleomycin hydrolase  
Size: 455 amino acids; 52562 Da
Subunit: Homohexamer
Subcellular location: Cytoplasm
PDB structure from and Proteopedia :
1CB5 (3D)    2CB5 (3D)    
Secondary accessions: Q53F86 Q9UER9

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_000377.1  

    ENSEMBL proteins: 
    ENSP00000261714 ENSP00000378296 


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

    3 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625 soluble fraction IEA--
    GO:0005634 nucleus TAS8639621
    GO:0005737 cytoplasm TAS8639621
    About this table

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

    Assays for BLMH: 
    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:
     IPR004134 Peptidase_C1B
     IPR000169 Pept_cys_AS


       GeneDecks  BLMH for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q13867

    ProtoNet protein and cluster: Q13867

    1 Blocks protein family: IPB004134 Peptidase C1-like family

    UniProtKB/Swiss-Prot: BLMH_HUMAN, Q13867
    Similarity: Belongs to the peptidase C1 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 (BLMH)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (BLMH)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000386

                  Applied Biosystems Silencer® siRNAs for BLMH

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

    Clones:Invitrogen Clones for BLMH
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000386
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000386
                                     untagged cDNA clone in CMV expression vector: NM_000386 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_000386

    UniProtKB/Swiss-Prot: BLMH_HUMAN, Q13867
    Function: The normal physiological role of BLM hydrolase is unknown, but it catalyzes the
    inactivation of the antitumor drug BLM (a glycopeptide) by hydrolyzing the carboxamide bond of its
    B-aminoalaninamide moiety thus protecting normal and malignant cells from BLM toxicity (By
    similarity)
    Catalytic activity: Inactivates bleomycin B2 (a cytotoxic glycometallopeptide) by hydrolysis of a
    carboxyamide bond of beta-aminoalanine, but also shows general aminopeptidase activity. The
    specificity varies somewhat with source, but amino acid arylamides of Met, Leu and Ala are
    preferred
    Enzyme Number (IUBMB): EC 3.4.22.40 

    Genatlas biochemistry entry for BLMH:
    bleomycin hydrolase,neutral cysteine protease,papain superfamily,widely expressed,maybe involved in
    bleomycin induced pulmonary fibrosis

    8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Blmh):

    behavior/neurologicalgrowth/sizehomeostasis/metabolismimmune system
    lethality-prenatal/perinatallimbs/digits/tailskin/coat/nails

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004177 aminopeptidase activity TAS9546396
    GO:0004180 carboxypeptidase activity TAS9546396
    GO:0004197 cysteine-type endopeptidase activity TAS8639621
    GO:0008233 peptidase 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 Sigma-Aldrich "Your Favorite Gene" Pathway for  BLMH  (Your Favorite Gene powered by Ingenuity) 
     Lysine Degradation

       GeneDecks  BLMH for the pathways selected above  
    About GeneDecksing

     Gene Network CentralTM Interacting Genes and Proteins Network for  BLMH 


    5/12 Interacting proteins for BLMH (ENSP000002617143 Q138672) via UniProtKB, MINT, and/or STRING (see all 12 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BLMHQ138672MINT-68470
    TRIOO759622MINT-64162
    NPBENSP000003327663STRING (score=.93)
    BAXENSP000002932883STRING (score=.9)
    BCL2L1ENSP000003652303STRING (score=.881)
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508 proteolysis TAS9546396
    GO:0009636 response to toxin IEA--
    GO:0042493 response to drug 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 BLMH
    1 Novoseek chemical compound relationship for BLMH gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    leucine 24.77 3 15187416 (1), 16455981 (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 (BLMH)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (BLMH)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000386

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

    Applied Biosystems Silencer® siRNAs: 

    NM_000386  

    REFSEQ mRNAs for BLMH gene: 

    NM_000386.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000386  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000386
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000386
                                     untagged cDNA clone in CMV expression vector: NM_000386 

    Additional cDNA sequence: 

    AF091082.1 AK057600.1 AK223403.1 AK301948.1 AK312896.1 BC003616.2 BT007018.1 X92106.1 

    17 DOTS entries:

    DT.101983117  DT.315911  DT.95124813  DT.100807028  DT.95124820  DT.100810339  DT.100810343  DT.100810344 
    DT.417729  DT.120916053  DT.92458086  DT.75186169  DT.100693584  DT.95124811  DT.95124772  DT.97859808 
    DT.92458092 

    24/342 AceView cDNA sequences (see all 342 ):

    CA426434 BQ690347 AI189260 BM463898 W74447 AA631008 CA416026 AA774218 
    AI056959 BC003616 AI745577 CB114960 BF002346 NM_000386 BQ639431 AA417881 
    BF055310 BQ072971 BE513584 AU279450 AI318426 BM676957 BM792704 BQ052359 

    highest scoring ESTs for BLMH:

    X92106 AA223448 AU077335 AU098904 BM755543 AA071022 AA113907 AL552976 AL559155 AL702789 

    Unigene Cluster for BLMH:

    Bleomycin hydrolase
    Hs.371914  [show with all ESTs]
    Unigene Representative Sequence: NM_000386


    GeneLoc Exon Structure

    5/15 Alternative Splicing Database (ASD) splice patterns (SP) for BLMH (see all 15 )

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

    ExUns: 12b ^ 13 ^ 14a · 14b
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        

    About this scheme

    ECgene alternative splicing isoforms for BLMH

    2 Ensembl transcripts including schematic representations:
    ENST00000261714  ENST00000394819  
    (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

    BLMH expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for BLMH

    1 / 2 / 3

    4 probe-sets matching BLMH gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    37700_at2, 3 U95-A 1 1.00 1.00 0.84 1.08 X92106 1.00 0.90 0.95 1

    394_at2, 3 U95-A 1 1.00 1.00 0.93 0.93 X92106 1.00 0.90 0.95 1

    202179_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000386 0.60 1.00 0.82 1

    202179_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  BLMH 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: GTCTCAGTCA

    SOURCE GeneReport for Unigene cluster: Hs.371914

    Expression variation in blood from EXPOLDB for BLMH

    (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 BLMH gene from 5/16 species (see all 16 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    BLMH1   -- bleomycin hydrolase 93.7(n)
    95.16(a)
    480635  XM_537755.2  XP_537755.2 
    chimpanzee
    (Pan troglodytes)
    BLMH1   -- bleomycin hydrolase 99.83(n)
    100(a)
    454555  XM_511383.2  XP_511383.2 
    cow
    (Bos taurus)
    BLMH1   -- bleomycin hydrolase 92.77(n)
    93.81(a)
    504483  XM_580618.3  XP_580618.3 
    rat
    (Rattus norvegicus)
    Blmh1   -- bleomycin hydrolase 90.92(n)
    93.63(a)
    287552  NM_001034163.1  NP_001029335.1 
    mouse
    (Mus musculus)
    Blmh1, 5 115
    bleomycin hydrolase1, 5 91.14(n)1
    93.19(a)1
    1041841  NM_178645.21  NP_848760.11 
     AA1035065  AI0357285  (see all 27)
    About this table        Species with no ortholog for BLMH

    ENSEMBL Gene Tree for BLMH
    (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


    10/165 NCBI SNPs in BLMH are shown (see all 165 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 64)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 17 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs65051651,2
    A,C,F25598975(+) GCAAAC/TTCAGT 1 -- ng513Minor allele frequency- T:0.47NA 140
    rs31908841,2
    C,F,H25600031(-) GTCTCC/TACCAG 1 -- ut31 ese39Minor allele frequency- T:0.02MN EU EA WA 1022
    rs10505651,2
    C,F,H25600202(-) CCATTA/GTCCTG 1 I/V mis1 ese311Minor allele frequency- N:0.00EA MN NA EU WA 2396
    --
    rs65051701,2
    A,C25643496(+) CCAAAA/CGGGAG 1 -- ng310--------
    rs116537771,2
    H25599284(+) GAGCCA/CCCTGG 1 -- ng514Minor allele frequency- C:0.00EU EA WA 400
    --
    rs38303171,2
    C25599577(-) GGGTG-/TGCACAT 1 -- ut310--------
    --
    rs38349771,2
    C25644103(-) CACAC-/ACTCAAC 1 -- ng310--------
    rs73429211,2
    A,C,F,H25636574(+) CCTTTG/CGTTGC 1 T/T syn1 ese312Minor allele frequency- C:0.24NA EU EA WA 990
    rs31100981,2
    A,C,F,H25631337(+) TCTTCC/TGCTTA 1 -- int14Minor allele frequency- T:0.15EU EA WA 418
    rs21297851,2
    C,F,H,O25614656(-) TACCAA/GCCTGG 1 -- int17Minor allele frequency- G:0.04EU EA WA NA 562
    About this table

    HapMap Linkage Disequilibrium images for BLMH (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: 602403   disorders: 104300  

    7 Novoseek disease relationships for BLMH gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    alzheimers disease 51.62 10 9818937 (2), 10350576 (2), 10822352 (2), 10973933 (1) (see all 7)
    senile plaques 28.46 2 10350576 (1), 11350084 (1)
    neurodegenerative diseases 8.16 1 12604387 (1)
    cancer 0.00 3 18398146 (1), 8063738 (1)
    tumors 0.00 7 9331073 (2), 8620487 (2), 10404591 (1), 12555812 (1)
    dementia 0.00 1 10530514 (1)
    lymphoma 0.00 1 8620487 (1)
    About this table

    Human Gene Mutation Database: BLMH
    Genetic Association Database: BLMH
    Human Genome Epidemiology Navigator: BLMH (8 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

    10/59 PubMed articles for BLMH gene (see all 59 ):
    (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: 642 HGNC: 1059 AceView: BLMH Ensembl:ENSG00000108578 euGenes: HUgn642
    ECgene: BLMH H-InvDB: BLMH
    (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
    ATLAS Chromosomes in Cancer entry for BLMH Genetics and Cytogenetics in Oncology and Haematology
    (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 BLMH:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
      Invitrogen Antibodies  Invitrogen Assays
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      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for BLMH-related products

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     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


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


      
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     Antibodies for BLMH

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