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

MMP23A Gene

pseudogene   GIFtS: 49
GCID: GC01P001619

matrix metallopeptidase 23A (pseudogene)

(Previous names: matrix metalloproteinase 23A, matrix metallopeptidase 23A...)
(Previous symbol: MMP21)
 Explore 4 diseases affiliated with
MMP23A via our new
 Human Malady Compendium 
Biological research products
for MMP23A
    

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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Matrix Metallopeptidase 23A (Pseudogene)1 2     Femalysin3
MMP211 2 3 5     MMP-213
MIFR1 2 5     MMP-223
MIFR-12 3     MMP-233
Matrix Metallopeptidase 23A1     MMP223
Matrix Metalloproteinase 23A1     Matrix Metalloproteinase-213
EC 3.4.24.-3     Matrix Metalloproteinase-223

External Ids:    HGNC: 71701   Entrez Gene: 85112   Ensembl: ENSG000002159147   OMIM: 6033205   UniProtKB: O759003   
ORGUL members:         
NONCODE:n405709    

Export aliases for MMP23A gene to outside databases

Previous GC identifers: GC01U990215 GC01P001436 GC01P001579 GC01P000048 GC01P9N0059 GC01P001557 GC01P000908


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

Entrez Gene summary for MMP23A:
This locus represents the partially duplicated copy of the MMP23B gene, and therefore considered a pseudogene. This
pseudogene is part of a duplicated region of chromosome 1p36.3. It belongs to the more centromeric copy of the
duplicated region. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: MMP23_HUMAN, O75900
Function: Protease. May regulate the surface expression of some potassium channels by retaining them in the endoplasmic
reticulum (By similarity)

summary for MMP23A:
Matrix metalloproteases (matrix metalloproteinase, MMPs), also called matrixins, are zinc-dependent
endopeptidases that are the major proteases involved in ECM degradation. MMPs are capable of degrading a
wide range of extracellular molecules and a number of bioactive molecules. 24 matrixin genes have been
identified in humans, which can be organized into six groups based on domain organization and substrate
preference: Collagenases (MMP-1, -8 and -13), Gelatinases (MMP-2 and MMP-9), Stromelysins (MMP-3, -10 and
-11), Matrilysin (MMP-7 and MMP-26), Membrane-type (MT)-MMPs (MMP-14, -15, -16, -17, -24 and -25) and others
(MMP-12, -19, -20, -21, -23, -27 and -28). MMP activity is regulated by two major endogenous inhibitors:
alpha2-macroglobulin and tissue inhibitors of metalloproteases (TIMPs). MMPs play a central role in cell
proliferation, migration, differentiation, angiogenesis, apoptosis and host defences. Dysregulatoin of MMPs
has been implicated in many diseases including arthritis, chronic ulcers, encephalomyelitis and cancer.
Tumour metastasis is a multistep process involving the dessemination of tumor cells from the primary tumor
to secondarys at a distant organ or tissue. One of the first steps in metastasis is the degradation of the
basement membrane, a process in which MMPs have been implicated. MMPs are secreted by tumor cells themselves
or by surrounding stromal cells stimulated by the nearby tumor. Numerous studies have linked altered MMP
expression in different human cancers with poor disease prognosis. MMP-1, -2, -3, -7, -9, -13 and -14 all
have elevated expression in primary tumors and/or metastases. Synthetic or natural inhibitors of MMPs result
in inhibition of metastasis, while up-regulation of MMPs led to enhanced cancer cell invasion.




(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_000001.10  NC_018912.1  NT_004350.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MMP23A gene promoter:
         ER-alpha   USF1   AML1a   Tal-1   Nkx5-1   Tal-1beta   E47   C/EBPalpha   ITF-2   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMMP23A promoter sequence
   Search SABiosciences Chromatin IP Primers for MMP23A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MMP23A


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

Entrez Gene cytogenetic band: 1p36.33   Ensembl cytogenetic band:  1p36.33   HGNC cytogenetic band: 1p36.3

MMP23A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MMP23A gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P001619:  view genomic region     (about GC identifiers)

Start:
1,631,369 bp from pter      End:
1,633,249 bp from pter
Size:
1,881 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: MMP23_HUMAN, O75900 (See protein sequence)
Recommended Name: Matrix metalloproteinase-23 precursor  
Size: 390 amino acids; 43935 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subcellular location: Endoplasmic reticulum membrane; Single-pass type II membrane protein (By similarity). Membrane;
Single-pass type II membrane protein. Note=A secreted form produced by proteolytic cleavage may also exist (Probable)
Secondary accessions: A2AGN0 A2AGN1 O75894 O75895 Q5QPQ8 Q76P96 Q7LDM6 Q7LDM7 Q9UBR9 Q9UJK8
Alternative splicing: 3 isoforms:  O75900-1   O75900-2   O75900-3   

Explore the universe of human proteins at neXtProt for MMP23A: NX_O75900

Post-translational modifications:

  • N-glycosylated1
  • Proteolytic cleavage might yield an active form (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O75900

  • MMP23A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).


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    Uscn Proteins for MMP23A


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

    MMP23A for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     IPR024079 MetalloPept_cat_dom
     IPR021190 Pept_M10A_matrixin
     IPR013783 Ig-like_fold
     IPR006026 Peptidase_Metallo
     IPR007110 Ig-like_dom

    Graphical View of Domain Structure for InterPro Entry O75900

    ProtoNet protein and cluster: O75900

    2 Blocks protein families:
    IPB003582 Metridin-like ShK toxin
    IPB003599 Immunoglobulin subtype


    UniProtKB/Swiss-Prot: MMP23_HUMAN, O75900
    Domain: The toxin-like domain associates with, and blocks several potassium channels in the nanomolar to low micromolar
    range. The relative affinity is Kv1.6 > Kv1.3 > Kv1.1 = Kv3.2 > Kv1.4 (By similarity)
    Similarity: Belongs to the peptidase M10A family
    Similarity: Contains 1 Ig-like C2-type (immunoglobulin-like) domain


    (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: MMP23_HUMAN, O75900
    Function: Protease. May regulate the surface expression of some potassium channels by retaining them in the endoplasmic
    reticulum (By similarity)
    Enzyme regulation: Inhibited by TIMP2 (By similarity)

         Genatlas biochemistry entry for MMP23A:
    matrix metalloproteinase 23A,regulator in matrix remodeling,with three alternatively spliced isoforms A,B,C,expressed
    in ovary,testis,prostate

    Enzyme Number (IUBMB): EC 3.4.24.-1

    miRNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MMP23A

    1 GenomeRNAi human phenotype for MMP23A:
     Increased viability after born 


    (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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Matrix Metalloproteinases
    Matrix Metalloproteinases1.00


    1 BioSystems Pathway for MMP23A 
        Matrix Metalloproteinases


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MMP23A

    (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
    EMD Millipore small molecules for MMP23A:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for MMP23A available from Tocris Bioscience    About this table
    CompoundAction CAS #
    CP 471474Broad spectrum MMP inhibitor[210755-45-6]
    MarimastatBroad spectrum MMP inhibitor[154039-60-8]
    ONO 4817Broad spectrum MMP inhibitor[223472-31-9]
    Batimastat Potent, broad spectrum MMP inhibitor [130370-60-4]
    PD 166793Broad spectrum MMP inhibitor[199850-67-4]

    1 DrugBank Compound for MMP23A    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Marimastat-- 154039-60-8targetinhibitor10852638 10669951

    Search CenterWatch for drugs/clinical trials and news about MMP23A 

    (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

    Unigene Cluster for MMP23A:

    Matrix metallopeptidase 23A (pseudogene)
    Hs.671760
    Unigene Representative Sequence: NR_002946
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000234610 ENST00000412810(uc001ahi.1 uc009vko.1)

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    Inhib. RNA
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    Additional cDNA sequence: 

    AF086353.1 NR_002946.1 

    3 DOTS entries:

    DT.100662335  DT.452256  DT.100021964 

    24/40 AceView cDNA sequences (see all 40):

    BX096766 BQ575307 BM930943 CR608527 BX100332 AF086353 BM679806 BM544158 
    AJ707857 BI517766 BI829304 AA151428 AF057062 CF127824 CB048617 AF057061 
    BM717784 BM796874 AI815030 BI518194 AI284983 AB010961 NM_006983 BC025719 

    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

    MMP23A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    About this image
    See MMP23A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MMP23A

    SOURCE GeneReport for Unigene cluster: Hs.671760

    UniProtKB/Swiss-Prot: MMP23_HUMAN, O75900
    Tissue specificity: Predominantly expressed in ovary, testis and prostate

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MMP23A

    (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 MMP23A gene from 1 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    rainbow trout
    (Oncorhynchus mykiss)
    Actinopterygii Omy.42642 Oncorhynchus mykiss transcribed sequence with moderate more 77.79(n)    BX858331.1 
            Species with no ortholog for MMP23A

    ENSEMBL Gene Tree for MMP23A (if available)
    TreeFam Gene Tree for MMP23A (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

    10/15 NCBI SNPs in MMP23A are shown (see all 15    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1396571921,2
    --1629461(+) AAAACA/GGGGCA 1 -- us2k10--------
    rs1163385091,2
    F,--1629487(+) AGGTGT/CCCACA 1 -- us2k13Minor allele frequency- C:0.50WA NA EA 358
    rs1431344911,2
    --1630752(+) GAGGC-/AGGAGGAG 1 -- us2k10--------
    rs2011872861,2
    --1633002(+) GGCAG-/CCGGGG 1 -- int10--------
    rs1852416821,2
    --1633004(+) GCAGCC/GGGGGG 1 -- int10--------
    rs1899528721,2
    --1633007(+) GCGGGC/GGGGGG 1 -- int10--------
    rs1825659961,2
    --1633440(+) ATAAGA/CGGAGG 1 -- ds50010--------
    rs2001481871,2
    ----1633259(+) CTCCTC/GGCTCA 1 -- ds50010--------
    rs1149104831,2
    ----1630566(+) AACTTC/TGTGTG 1 -- us2k10--------
    rs2017572671,2
    ----1629764(+) GCCCCA/GGGAAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MMP23A (1631369 - 1633249 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 11 variations for MMP23A
         11 CNVs: 2042 22925 38832 2295 30362 3276 0002 31596 84001 63709 74286

    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

    MMP23A for disorders           About GeneDecksing

    OMIM gene information: 603320    OMIM disorders: --

    4 diseases for MMP23A:    About MalaCards
    encephalomyelitis    breast cancer    arthritis    prostatitis


    Export disorders for MMP23A 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 MMP23A gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with MMP23A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and characterization of two novel metalloproteinase genes linked to the Cdc2L locus on human chromosome 1p36.3. (PubMed id 9740677)1, 2, 3, 9 Gururajan R.... Kidd V.J. (1998)
    2. Cloning and characterization of a rat ortholog of MMP-23 (matrix metalloproteinase-23), a unique type of membrane-anchored matrix metalloproteinase and conditioned switching of its expression during the ovarian follicular development. (PubMed id 11328856)1, 2 Ohnishi J....Takahashi T. (2001)
    3. Cloning and characterization of human MMP-23, a new matrix metalloproteinase predominantly expressed in reproductive tissues and lacking conserved domains in other family members. (PubMed id 9988691)1, 2 Velasco G....Lopez-Otin C. (1999)
    4. Duplication of a genomic region containing the Cdc2L1-2 and MMP21-22 genes on human chromosome 1p36.3 and their linkage to D1Z2. (PubMed id 9750192)1, 3 Gururajan R....Kidd V.J. (1998)
    5. Potassium channel modulation by a toxin domain in mat rix metalloprotease 23. (PubMed id 19965868)1 Rangaraju S....Chandy K.G. (2010)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
    7. Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure. (PubMed id 15483646)1 Gajecka M....Shaffer L.G. (2005)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    9. Structural differences of matrix metalloproteinases. Homology modeling and energy minimization of enzyme-substrate complexes. (PubMed id 10949161)1 Terp G.E....Jorgensen F.S. (2000)
    10. Clinical potential of matrix metalloprotease inhibito rs in cancer therapy. (PubMed id 10852638)7 Heath E.I. and Grochow L.B. (2000)

    (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: 8511 HGNC: 7170 AceView: MMP23B.1 Ensembl:ENSG00000215914 euGenes: HUgn8511
    ECgene: MMP23A H-InvDB: MMP23A

    (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 MMP23A Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MMP23A Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MMP23A gene:
    Search GeneIP for patents involving MMP23A

    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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