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

CCDC91 Gene

protein-coding   GIFtS: 44
GCID: GC12P028302

coiled-coil domain containing 91

 Explore 2 diseases affiliated with
CCDC91 via our new
 Human Malady Compendium 
Biological research products
for CCDC91
    

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

Aliases
Coiled-Coil Domain Containing 911 2     FLJ110881
P561     Coiled-Coil Domain-Containing Protein 912
GGA-Binding Partner2 3     GGA Binding Partner2
P56 Accessory Protein2 3     GGABP3
DKFZp779L15581     

External Ids:    HGNC: 248551   Entrez Gene: 552972   Ensembl: ENSG000001231067   UniProtKB: Q7Z6B03   

Export aliases for CCDC91 gene to outside databases

Previous GC identifers: GC12P028410 GC12P028179


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

UniProtKB/Swiss-Prot: CCD91_HUMAN, Q7Z6B0
Function: Involved in the regulation of membrane traffic through the trans-Golgi network (TGN)




(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_000012.11  NC_018923.1  NT_009714.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CCDC91 gene promoter:
         Pax-2b   AML1a   Pax-2   Pax-2a   ZID   NF-AT   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC91 promoter sequence
   Search SABiosciences Chromatin IP Primers for CCDC91

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC91


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

Entrez Gene cytogenetic band: 12p11.22   Ensembl cytogenetic band:  12p11.22   HGNC cytogenetic band: 12p11.22

CCDC91 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC91 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P028302:  view genomic region     (about GC identifiers)

Start:
28,286,182 bp from pter      End:
28,732,883 bp from pter
Size:
446,702 bases      Orientation:
plus 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: CCD91_HUMAN, Q7Z6B0 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 91  
Size: 441 amino acids; 49971 Da
Subunit: Homodimer. Interacts with GGA1, GGA2 and AP1G1
Subcellular location: Membrane; Peripheral membrane protein. Golgi apparatus, trans-Golgi network membrane; Peripheral
membrane protein. Note=Colocalizes with GGA1 and GGA2. May be recruited to the TGN by GGA1 and GGA2
Sequence caution: Sequence=BAA91995.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
1 PDB 3D structure from and Proteopedia for CCDC91:
1OM9 (3D)    
Secondary accessions: B3KSA3 C9JR07 Q68D43 Q6IA78 Q8NEN7 Q9NUW9
Alternative splicing: 3 isoforms:  Q7Z6B0-1   Q7Z6B0-2   Q7Z6B0-3   (Does not bind GGAs)

Explore the universe of human proteins at neXtProt for CCDC91: NX_Q7Z6B0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q7Z6B0

  • CCDC91 Protein expression data from MOPED and PaxDb:    About this image 
    CCDC91 Protein Expression
    REFSEQ proteins: NP_060788.3  
    ENSEMBL proteins: 
     ENSP00000441714   ENSP00000440194   ENSP00000444440   ENSP00000438558   ENSP00000440513  
     ENSP00000445660   ENSP00000438040   ENSP00000446045   ENSP00000441651   ENSP00000442544  
     ENSP00000445999   ENSP00000442473   ENSP00000444038   ENSP00000446329   ENSP00000439935  
     ENSP00000446059   ENSP00000370658   ENSP00000370655   ENSP00000305075  

    Human Recombinant Protein Products for CCDC91: 
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    Novus Biologicals CCDC91 Protein
    Novus Biologicals CCDC91 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CCDC91

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005794Golgi apparatus IDA--
    GO:0016020membrane IEA--

    CCDC91 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for CCDC91


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

    ProtoNet protein and cluster: Q7Z6B0


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CCD91_HUMAN, Q7Z6B0
    Function: Involved in the regulation of membrane traffic through the trans-Golgi network (TGN)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042802identical protein binding IEA--
         
    CCDC91 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CCDC91 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidCCDC91 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC91


    (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 CCDC91

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5/8 Interacting proteins for CCDC91 (Q7Z6B02, 3 ENSP000003706584) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TESCQ96BS22, 3, ENSP000003763284MINT-66668 I2D: score=4 STRING: ENSP00000376328
    GGA1Q9UJY53, ENSP000003413444I2D: score=1 STRING: ENSP00000341344
    GGA2Q9UJY43, ENSP000003119624I2D: score=1 STRING: ENSP00000311962
    SYNRGQ9UMZ23, ENSP000000052794I2D: score=1 STRING: ENSP00000005279
    EWSR1Q018443, ENSP000003810314I2D: score=3 STRING: ENSP00000381031
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015031protein transport IEA--

    CCDC91 for ontologies           About GeneDecksing



    (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 CCDC91
    Search CenterWatch for drugs/clinical trials and news about CCDC91 / CCD91 

    (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, Sirion Biotech, 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 CCDC91 gene: 
    NM_018318.3  

    Unigene Cluster for CCDC91:

    Coiled-coil domain containing 91
    Hs.653125  [show with all ESTs]
    Unigene Representative Sequence: BC035168
    18/23 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000540794 ENST00000538586 ENST00000536154 ENST00000535520 ENST00000539107(uc009zjl.3)
    ENST00000536442 ENST00000544649 ENST00000545336(uc001rio.3 uc009zjk.3 uc001riq.3)
    ENST00000544780 ENST00000543534 ENST00000543809 ENST00000545737(uc001rip.1)
    ENST00000540401 ENST00000539904 ENST00000535212 ENST00000542801 ENST00000542814
    ENST00000539270

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CCDC91
    6 QIAGEN miScript miRNA Assays for microRNAs that regulate CCDC91:
    hsa-miR-520d-5p hsa-miR-524-5p hsa-miR-362-5p hsa-miR-518f* hsa-miR-376c hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidCCDC91 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: CCDC91
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    Additional cDNA sequence: 

    AK001950.1 AK093152.1 AK309181.1 AY251168.1 AY289196.1 BC018679.1 BC028682.2 BC035168.1 
    CR457277.1 CR749586.1 

    17 DOTS entries:

    DT.95372624  DT.312407  DT.100780042  DT.100780040  DT.95261953  DT.100023552  DT.121164164  DT.86836842 
    DT.95372619  DT.100009204  DT.121164165  DT.75178400  DT.100780044  DT.121164095  DT.40301714  DT.95219627 
    DT.121164137 

    24/142 AceView cDNA sequences (see all 142):

    AW275236 AI802999 AU120242 BG219692 BQ434941 AA721285 AW469214 AL544393 
    AA215390 AW275212 AA749018 BF058503 AI700920 AA889709 CR603339 AY251168 
    AA805624 AW275229 AA767888 AK001950 AI271949 AW575490 BG682293 BU739164 

    GeneLoc Exon Structure


    (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

    CCDC91 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGCTTTGTAC
    CCDC91 Expression
    About this image
    See CCDC91 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CCDC91

    SOURCE GeneReport for Unigene cluster: Hs.653125

    UniProtKB/Swiss-Prot: CCD91_HUMAN, Q7Z6B0
    Tissue specificity: Widely expressed

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC91

    (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 chordates.

    Orthologs for CCDC91 gene from 3/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc911 , 5 coiled-coil domain containing 911, 5 77.4(n)1
    79.14(a)1
      6 (78.22 cM)5
    670151  NM_025911.21  NP_080187.21 
     1474758715 
    chicken
    (Gallus gallus)
    Aves CCDC911 coiled-coil domain containing 91 73.95(n)
    68.02(a)
      419045  XM_417236.3  XP_417236.2 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC916
    --
    54(a)
    1 ↔ 1
    5(82529628-82590919)


    ENSEMBL Gene Tree for CCDC91 (if available)
    TreeFam Gene Tree for CCDC91 (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

    10/4387 NCBI SNPs in CCDC91 are shown (see all 4387    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1462661821,2
    --28408237(+) ATTCCA/GTTCTT 1 -- us2k10--------
    rs1897860341,2
    --28408307(+) GATTCA/GTGGGA 1 -- us2k10--------
    rs1831516061,2
    --28408355(+) ACTTGA/GTTAAT 1 -- us2k10--------
    rs14783321,2
    C,F,O,A,H--28408365(-) AACATT/CAAGAA 1 -- us2k1 tfbs333Minor allele frequency- C:0.42NA NS EA WA CSA 2917
    rs128180241,2
    C,H--28408444(+) ACACAG/AAATAA 1 -- us2k14Minor allele frequency- A:0.00NS EA 420
    rs1890764421,2
    --28408455(+) TGTGAA/GTTCCA 1 -- us2k10--------
    rs730839331,2
    C--28408551(+) TTTTTA/GGAGAA 1 -- us2k10--------
    rs128182621,2
    C,F,H--28408583(+) CATCAG/AATTGC 1 -- us2k110Minor allele frequency- A:0.10NS EA NA 668
    rs1931393101,2
    --28408908(+) TAGTTG/TAATAT 1 -- us2k10--------
    rs730839351,2
    C,F--28408914(+) AATATG/ATATAG 1 -- us2k11Minor allele frequency- A:0.05WA 118

    HapMap Linkage Disequilibrium report for CCDC91 (28286182 - 28536182 bp, first 250kb of CCDC91)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for CCDC91
         3 CNVs: 53386 49041 53193

    SABiosciences Cancer Mutation PCR Assays
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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

    CCDC91 for disorders           About GeneDecksing

    2 diseases for CCDC91:    About MalaCards
    polycystic kidney disease    kidney disease

    Human Genome Epidemiology (HuGE) Navigator: CCDC91 (2 documents)

    Export disorders for CCDC91 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 CCDC91 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with CCDC91)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Binding partners for the COOH-terminal appendage domains of the GGAs and gamma-adaptin. (PubMed id 12808037)1, 2, 3 Lui W.W.Y.... Robinson M.S. (2003)
    2. Structural basis for binding of accessory proteins by the appendage domain of GGAs. (PubMed id 12858163)1, 2, 9 Collins B.M.... Owen D.J. (2003)
    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. The trans-Golgi network accessory protein p56 promotes long-range movement of GGA/clathrin-containing transport carriers and lysosomal enzyme sorting. (PubMed id 17596511)1, 9 Mardones G.A....Bonifacino J.S. (2007)
    6. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    9. Novel association strategy with copy number variation for identifying new risk Loci of human diseases. (PubMed id 20808825)1 Chen X....Kong X. (2010)
    10. Hundreds of variants clustered in genomic loci and bi ological pathways affect human height. (PubMed id 20881960)1 Lango Allen H....Hirschhorn J.N. (2010)

    (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, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55297 HGNC: 24855 AceView: FLJ11088 Ensembl:ENSG00000123106 euGenes: HUgn55297
    ECgene: CCDC91 H-InvDB: CCDC91

    (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 CCDC91 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 CCDC91 gene:
    Search GeneIP for patents involving CCDC91

    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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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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    About This Section

     
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