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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

XXYLT1 Gene

protein-coding   GIFtS: 41
GCID: GC03M194790

xyloside xylosyltransferase 1

(Previous name: chromosome 3 open reading frame 21 )
(Previous symbol: C3orf21)
 Explore 1 disease affiliated with
XXYLT1 via our new
 Human Malady Compendium 
Biological research products
for XXYLT1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Xyloside Xylosyltransferase 11 2
C3orf211 2 3
UDP-Xylose:Alpha-Xyloside Alpha-1,3-Xylosyltransferase2 3
FLJ351551
Chromosome 3 Open Reading Frame 211
EC 2.4.2.N31

External Ids:    HGNC: 266391   Entrez Gene: 1520022   Ensembl: ENSG000001739507   OMIM: 6145525   UniProtKB: Q8NBI63   

Export aliases for XXYLT1 gene to outside databases


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

UniProtKB/Swiss-Prot: XXLT1_HUMAN, Q8NBI6
Function: Alpha-1,3-xylosyltransferase, which elongates the O-linked xylose-glucose disaccharide attached to EGF-like
repeats in the extracellular domain of Notch proteins by catalyzing the addition of the second xylose




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_029928.13  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for XXYLT1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidXXYLT1 promoter sequence
   Search SABiosciences Chromatin IP Primers for XXYLT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat XXYLT1


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

Entrez Gene cytogenetic band: 3q29   Ensembl cytogenetic band:  3q29   HGNC cytogenetic band: 3q29

XXYLT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
XXYLT1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M194790:  view genomic region     (about GC identifiers)

Start:
194,789,008 bp from pter      End:
194,991,896 bp from pter
Size:
202,889 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: XXLT1_HUMAN, Q8NBI6 (See protein sequence)
Recommended Name: Xyloside xylosyltransferase 1  
Size: 393 amino acids; 43807 Da
Subunit: Monomer. Homodimer. Dimer formation may be essential for the retention in endoplasmic reticulum
Subcellular location: Endoplasmic reticulum membrane; Single-pass type II membrane protein
Caution: It is uncertain whether Met-1 or Met-14 is the initiator
Sequence caution: Sequence=AAH19036.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: D3DNW5 Q8NAL3 Q8WV03 Q96ME0
Alternative splicing: 3 isoforms:  Q8NBI6-1   Q8NBI6-2   Q8NBI6-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for XXYLT1: NX_Q8NBI6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NBI6

  • XXYLT1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_689744.3  
    ENSEMBL proteins: 
     ENSP00000309640   ENSP00000409865   ENSP00000399422   ENSP00000349179   ENSP00000393989  
     ENSP00000405583   ENSP00000347967  

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    Uscn Proteins for XXYLT1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016021integral to membrane IEA--


    XXYLT1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for XXYLT1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    XXYLT1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR002495 Glyco_trans_8

    Graphical View of Domain Structure for InterPro Entry Q8NBI6

    ProtoNet protein and cluster: Q8NBI6

    1 Blocks protein family: IPB002495 Glycosyl transferase

    UniProtKB/Swiss-Prot: XXLT1_HUMAN, Q8NBI6
    Similarity: Belongs to the glycosyltransferase 8 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: XXLT1_HUMAN, Q8NBI6
    Function: Alpha-1,3-xylosyltransferase, which elongates the O-linked xylose-glucose disaccharide attached to EGF-like
    repeats in the extracellular domain of Notch proteins by catalyzing the addition of the second xylose
    Catalytic activity: UDP-D-xylose + alpha-D-xylose-(1->3)-beta-D-glucosyl-R = UDP +
    alpha-D-xylose-(1->3)-alpha-D-xylose-(1->3)-beta-D-glucosyl-R

    Enzyme Number (IUBMB): EC 2.4.2.n31

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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XXYLT1

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016763transferase activity, transferring pentosyl groups IEA--


    XXYLT1 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for XXYLT1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for XXYLT1 (ENSP000003096404) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GCSAMENSP000003094874STRING: ENSP00000309487
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    --ENSP000004033774STRING: ENSP00000403377
    --ENSP000003919014STRING: ENSP00000391901
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for XXYLT1
    Search CenterWatch for drugs/clinical trials and news about XXYLT1 / XXLT1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for XXYLT1 gene: 
    NM_152531.4  

    Unigene Clusters for XXYLT1:

    Xyloside xylosyltransferase 1
    Hs.478741  [show with all ESTs], Hs.743284  [show with all ESTs]
    Unigene Representative Sequences: NM_152531, AK024181
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000310380(uc003fuk.3 uc003fum.4) ENST00000437101(uc003ful.3)
    ENST00000460582 ENST00000473200 ENST00000429994(uc011bsw.1) ENST00000356740
    ENST00000418940 ENST00000491138 ENST00000496644 ENST00000476897 ENST00000494175
    ENST00000455281 ENST00000355729

    miRNA
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    Inhib. RNA
    Products:
         
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for XXYLT1 (see all 4)
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    Clone
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    Additional cDNA sequence: 

    AK024181.1 AK057046.1 

    9 DOTS entries:

    DT.97841771  DT.91741423  DT.40229786  DT.95135847  DT.91722176  DT.91741418  DT.95375033  DT.97773649 
    DT.99946695 

    24/116 AceView cDNA sequences (see all 116):

    BU556747 AI459991 BE220593 AX747562 BX385479 AK092474 AI459077 BI915160 
    AK075551 AI954532 BQ669651 AA340323 CR591622 BQ894206 CR626411 AA338587 
    BU184281 AI298918 BE515127 AI863661 BG753678 AU122209 CR614018 BE794557 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for XXYLT1 (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c · 13d · 13e
    SP1:                                            -     -     -     -     -                                 
    SP2:              -     -     -     -           -     -     -     -     -                                 
    SP3:                                                                                                      
    SP4:                                                  -     -     -     -                                 
    SP5:                                                        -     -     -                                 


    ECgene alternative splicing isoforms for XXYLT1

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    XXYLT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGTGAGGATA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See XXYLT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for XXYLT1

    SOURCE GeneReport for Unigene clusters: Hs.478741 Hs.743284
        SABiosciences Custom PCR Arrays for XXYLT1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XXYLT1

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for XXYLT1 gene from 6/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia AI4806531 , 5 expressed sequence AI4806531, 5 90.14(n)1
    92.86(a)1
      16 (21.34 cM)5
    2688801  NM_198626.21  NP_941028.21 
     309556275 
    chicken
    (Gallus gallus)
    Aves XXYLT11 xyloside xylosyltransferase 1 71.04(n)
    72.24(a)
      424896  XM_422707.3  XP_422707.3 
    lizard
    (Anolis carolinensis)
    Reptilia C3orf216
    --
    67(a)
    1 ↔ 1
    GL343538.1(517859-521728)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.195042 Xenopus laevis transcribed sequences 81.75(n)    BX847992.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003346691 uncharacterized protein C3orf21 homolog 64.44(n)
    62.13(a)
      100334669  XM_002663810.2  XP_002663856.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG113881 CG11388 55.48(n)
    45.1(a)
      37833  NM_138027.2  NP_611871.2 


    ENSEMBL Gene Tree for XXYLT1 (if available)
    TreeFam Gene Tree for XXYLT1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4222 NCBI SNPs in XXYLT1 are shown (see all 4222    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1813218741,2
    --194788523(+) AGACAC/TAATGA 1 -- int10--------
    rs775173881,2
    F,--194788550(+) ATAAAC/TATTAT 1 -- int11Minor allele frequency- T:0.06WA 118
    rs580907491,2
    C,F,--194788638(+) TCAAGT/CAGGTG 1 -- int12Minor allele frequency- C:0.09WA EA 238
    rs557811301,2
    C,F,--194788791(+) TGCCAA/GTACCT 1 -- int16Minor allele frequency- G:0.36WA CSA NA EA 364
    rs1398175731,2
    --194788816(+) CCTTGC/TTTTGA 1 -- int10--------
    rs1155104921,2
    F,--194788858(+) CCCTCT/CCAGAT 1 -- int11Minor allele frequency- C:0.03WA 118
    rs796404141,2
    F,--194788941(+) CATTGA/GGTACA 1 -- int11Minor allele frequency- G:0.06WA 118
    rs781825541,2
    C,F,--194788995(+) AACAAA/CCAACA 1 -- int11Minor allele frequency- C:0.04WA 118
    rs27209301,2
    C,F,A,H,--194789032(+) TTATTA/GGCTAT 1 -- ut3122Minor allele frequency- G:0.27EA NS NA WA CSA 2302
    rs1467987171,2
    C,--194789075(+) AATCA-/AAAC  
            
    AAACA
    1 -- ut310--------

    HapMap Linkage Disequilibrium report for XXYLT1 (194789008 - 194991896 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for XXYLT1: --

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    XXYLT1 for disorders           About GeneDecksing

    OMIM gene information: 614552    OMIM disorders: --

    1 disease for XXYLT1:    About MalaCards
    lung cancer


    Export disorders for XXYLT1 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)
    About This Section

    PubMed articles for XXYLT1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with XXYLT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of a xylosyltransferase that transfers the second xylose to O-glucosylated epidermal growth factor repeats of Notch. (PubMed id 22117070)1, 2, 3 Sethi M.K.... Bakker H. (2011)
    2. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (2005)
    3. 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. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    6. A genome-wide association study reveals susceptibilit y variants for non-small cell lung cancer in the Korean population. (PubMed id 20876614)1 Yoon K.A....Lee J.S. (2010)
    7. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    8. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    9. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      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)
    About This Section
    Entrez Gene: 152002 HGNC: 26639 AceView: FLJ35155 Ensembl:ENSG00000173950 euGenes: HUgn152002
    ECgene: XXYLT1 H-InvDB: XXYLT1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for XXYLT1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for XXYLT1 gene:
    Search GeneIP for patents involving XXYLT1

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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