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

MFAP3 Gene

protein-coding   GIFtS: 49
GCID: GC05P153398

microfibrillar-associated protein 3

  Search for MFAP3
in our new
 Human Malady Compendium 
Biological research products
for MFAP3
    

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

Aliases
Microfibrillar-Associated Protein 31 2
Microfibril-Associated Glycoprotein 32

External Ids:    HGNC: 70341   Entrez Gene: 42382   Ensembl: ENSG000000377497   OMIM: 6004915   UniProtKB: P550823   

Export aliases for MFAP3 gene to outside databases

Previous GC identifers: GC05P153490 GC05P154014 GC05P153447 GC05P148559


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

UniProtKB/Swiss-Prot: MFAP3_HUMAN, P55082
Function: Component of the elastin-associated microfibrils




(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_000005.9  NC_018916.1  NT_029289.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MFAP3 gene promoter:
         RREB-1   Pax-6   Nkx2-5   STAT5A   CUTL1   E4BP4   HNF-3beta   GATA-1   HEN1   Msx-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMFAP3 promoter sequence
   Search SABiosciences Chromatin IP Primers for MFAP3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MFAP3


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

Entrez Gene cytogenetic band: 5q32-q33.2   Ensembl cytogenetic band:  5q33.2   HGNC cytogenetic band: 5q32-q33.2

MFAP3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MFAP3 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P153398:  view genomic region     (about GC identifiers)

Start:
153,418,466 bp from pter      End:
153,600,038 bp from pter
Size:
181,573 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: MFAP3_HUMAN, P55082 (See protein sequence)
Recommended Name: Microfibril-associated glycoprotein 3 precursor  
Size: 362 amino acids; 40165 Da
Subcellular location: Cell membrane; Single-pass type I membrane protein (Potential)
Sequence caution: Sequence=BAA91108.1; Type=Frameshift; Positions=238;
Secondary accessions: B2RDK0 B4DKA1 Q9NXA7
Alternative splicing: 2 isoforms:  P55082-1   P55082-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MFAP3: NX_P55082

Post-translational modifications:

  • Glycosylated (Probable)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P55082

  • MFAP3 Protein expression data from MOPED and PaxDb:    About this image 
    MFAP3 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001128509.1  NP_001229265.1  NP_005918.1  

    ENSEMBL proteins: 
     ENSP00000430852   ENSP00000414219   ENSP00000322956   ENSP00000430602   ENSP00000430007  
     ENSP00000409933  
    Reactome Protein details: P55082
    Human Recombinant Protein Products for MFAP3: 
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    Novus Biologicals MFAP3 Proteins
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    Browse Sino Biological Recombinant Proteins
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    Uscn Proteins for MFAP3

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0016021integral to membrane IEA--

    MFAP3 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for MFAP3


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

    MFAP3 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR003598 Ig_sub2
     IPR013098 Ig_I-set
     IPR013783 Ig-like_fold
     IPR007110 Ig-like_dom

    Graphical View of Domain Structure for InterPro Entry P55082

    ProtoNet protein and cluster: P55082

    1 Blocks protein family: IPB003598 Immunoglobulin C-2 type

    UniProtKB/Swiss-Prot: MFAP3_HUMAN, P55082
    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, 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: MFAP3_HUMAN, P55082
    Function: Component of the elastin-associated microfibrils

         Genatlas biochemistry entry for MFAP3:
    microfibrillar associated glycoprotein 3,4.kDa,component of microfibrils in the extracellular matrix

    Phenotypes:
         1 MGI phenotypic allele for Mfap3 (no phenotypes)

    MFAP3 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MFAP3 

    miRNA
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    hsa-miR-361-5p hsa-miR-29a hsa-miR-3074-3p hsa-miR-192 hsa-miR-186 hsa-miR-155 hsa-miR-2116 hsa-miR-4293
    SwitchGear 3'UTR luciferase reporter plasmidMFAP3 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    (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
    1Elastic fibre formation
    Elastic fibre formation1.00
    Molecules associated with elastic fibres0.84
    2Collagen formation
    Extracellular matrix organization0.54

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    3        Reactome Pathways for MFAP3
        Molecules associated with elastic fibres
    Extracellular matrix organization
    Elastic fibre formation



    MFAP3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MFAP3

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for MFAP3 (ENSP000003229564) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    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 MFAP3
    Search CenterWatch for drugs/clinical trials and news about MFAP3 

    (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 MFAP3 gene (3 alternative transcripts): 
    NM_001135037.1  NM_001242336.1  NM_005927.4  

    Unigene Cluster for MFAP3:

    Microfibrillar-associated protein 3
    Hs.432818  [show with all ESTs]
    Unigene Representative Sequence: NM_001242336
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000522782 ENST00000439768 ENST00000520327 ENST00000521527 ENST00000322602
    ENST00000522177 ENST00000520899 ENST00000519928 ENST00000522440 ENST00000518497
    ENST00000519612 ENST00000519325 ENST00000436816(uc003lvf.2 uc010jib.2 uc011ddb.1)


    miRNA
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    8/51 QIAGEN miScript miRNA Assays for microRNAs that regulate MFAP3 (see all 51):
    hsa-miR-361-5p hsa-miR-29a hsa-miR-3074-3p hsa-miR-192 hsa-miR-186 hsa-miR-155 hsa-miR-2116 hsa-miR-4293
    SwitchGear 3'UTR luciferase reporter plasmidMFAP3 3' UTR sequence
    Inhib. RNA
    Products:
         
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MFAP3 (see all 7)
    OriGene shRNA RFP: MFAP3
    OriGene siRNA: MFAP3
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    Sirion Biotech Custom design and validation of potent shRNA sequences against MFAP3 
    Clone
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    Additional cDNA sequence: 

    AK000358.1 AK296468.1 AK315573.1 AL049404.1 BC026244.1 

    6 DOTS entries:

    DT.115880  DT.120855791  DT.100742782  DT.120855794  DT.91893529  DT.95362715 

    24/128 AceView cDNA sequences (see all 128):

    BM830505 AL049404 BU687494 AA970530 AI754856 BQ575760 BQ009115 BQ216617 
    BU520768 BX493577 AV703428 AI684093 CB163772 AI352003 BM666250 BM665352 
    BE646168 BM711267 AA443389 AA400291 CA436679 BM988683 BU733982 AA442818 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for MFAP3    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c · 4d
    SP1:                                                                        
    SP2:              -     -                       -                           
    SP3:                    -                       -                           
    SP4:                                            -                           
    SP5:                                                                        


    ECgene alternative splicing isoforms for MFAP3

    (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

    MFAP3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGTGCTAGCC
    MFAP3 Expression
    About this image
    See MFAP3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MFAP3

    SOURCE GeneReport for Unigene cluster: Hs.432818
        SABiosciences Custom PCR Arrays for MFAP3

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MFAP3

    (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 MFAP3 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mfap31 , 5 microfibrillar-associated protein 31, 5 84.2(n)1
    84.68(a)1
      11 (35.27 cM)5
    2167601  NM_145426.21  NP_663401.21 
     575186645 
    chicken
    (Gallus gallus)
    Aves MFAP31 microfibrillar-associated protein 3 69.73(n)
    67.06(a)
      416261  NM_001012784.1  NP_001012802.1 
    lizard
    (Anolis carolinensis)
    Reptilia MFAP36
    --
    62(a)
    1 ↔ 1
    GL343205.1(29657-33118)


    ENSEMBL Gene Tree for MFAP3 (if available)
    TreeFam Gene Tree for MFAP3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MFAP3 gene
    MFAP3L2  
    1 SIMAP similar gene for MFAP3 using alignment to 4 protein entries:     MFAP3_HUMAN (see all proteins):
    MFAP3L

    MFAP3 for paralogs           About GeneDecksing



    (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

    10/335 NCBI SNPs in MFAP3 are shown (see all 335    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1491272891,2
    --153416639(+) CACCTA/GCCTTA 4 -- us2k1 int10--------
    rs1432914831,2
    --153416808(+) AAGGCA/GTGAAG 4 -- us2k1 int10--------
    rs1483175881,2
    --153416832(+) TTAAGA/GCAACA 4 -- int1 us2k10--------
    rs1415290191,2
    --153416883(+) TTACAC/TATTTC 4 -- int1 us2k10--------
    rs1475185641,2
    --153416926(+) TACTCA/GCTGAC 4 -- us2k1 int10--------
    rs1828283971,2
    --153416968(+) CACTCG/TCAAAC 4 -- us2k1 int10--------
    rs1384596321,2
    --153416988(+) GTACCC/TACTAC 4 -- us2k1 int10--------
    rs793714521,2
    C,F--153417008(+) AGTACC/TACAGT 4 -- us2k1 int11Minor allele frequency- T:0.18EA 120
    rs1874335551,2
    --153417177(+) ATTATA/CATCAT 4 -- int1 us2k10--------
    rs14700111,2
    --153417302(+) ggtctC/Tgctat 4 -- us2k1 int10--------

    HapMap Linkage Disequilibrium report for MFAP3 (153418466 - 153600038 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for MFAP3: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MFAP3
    DNA2.0 Custom Variant and Variant Library Synthesis for MFAP3

    (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

    MFAP3 for disorders           About MalaCards

    MFAP3 for disorders           About GeneDecksing

    OMIM gene information: 600491    OMIM disorders: --

    Human Genome Epidemiology (HuGE) Navigator: MFAP3 (3 documents)

    Export disorders for MFAP3 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 MFAP3 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with MFAP3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of the microfibrillar protein MFAP3 and assignment of the gene to human chromosome 5q32-q33.2. (PubMed id 7782085)1, 2, 3, 9 Abrams W.R.... Rosenbloom J. (1995)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    5. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    6. Genome-Wide Association of BMI in African Americans. (PubMed id 21701570)1 Ng M.C....Bowden D.W. (2011)
    7. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
    8. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
    9. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)2 Schmutz J.... Rubin E.M. (2004)
    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
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    Aliases
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    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4238 HGNC: 7034 AceView: MFAP3 Ensembl:ENSG00000037749 euGenes: HUgn4238
    ECgene: MFAP3 H-InvDB: MFAP3

    (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 MFAP3 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 MFAP3 gene:
    Search GeneIP for patents involving MFAP3

    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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     
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