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

KLHL24 Gene

protein-coding   GIFtS: 48
GCID: GC03P183353

kelch-like family member 24

(Previous name: kelch-like 24 (Drosophila) )
 Explore 4 diseases affiliated with
KLHL24 via our new
 Human Malady Compendium 
Biological research products
for KLHL24
    

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

Aliases
Kelch-Like Family Member 241 2     Kelch-Like 24 (Drosophila)1
DRE11 2 3     Kainate Receptor Interacting Protein For GluR62
Kainate Receptor-Interacting Protein For GluR62 3     Kelch-Like 242
KRIP62 3     Kelch-Like Protein 242
FLJ200591     Protein DRE13

External Ids:    HGNC: 259471   Entrez Gene: 548002   Ensembl: ENSG000001147967   OMIM: 6112955   UniProtKB: Q6TFL43   

Export aliases for KLHL24 gene to outside databases

Previous GC identifers: GC03P184837 GC03P180759


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

UniProtKB/Swiss-Prot: KLH24_HUMAN, Q6TFL4
Function: Specifically reduces kainate receptor-mediated currents in hippocampal neurons, most probably by modulating
channel properties (By similarity)




(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_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KLHL24 gene promoter:
         ER-alpha   NF-1   GATA-3   AML1a   GATA-1   PPAR-gamma1   POU2F1   POU2F1a   PPAR-gamma2   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKLHL24 promoter sequence
   Search SABiosciences Chromatin IP Primers for KLHL24

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KLHL24


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

Entrez Gene cytogenetic band: 3q27.1   Ensembl cytogenetic band:  3q27.1   HGNC cytogenetic band: 3q27.1

KLHL24 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLHL24 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P183353:  view genomic region     (about GC identifiers)

Start:
183,353,356 bp from pter      End:
183,402,307 bp from pter
Size:
48,952 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: KLH24_HUMAN, Q6TFL4 (See protein sequence)
Recommended Name: Kelch-like protein 24  
Size: 600 amino acids; 68361 Da
Subunit: Forms homodimers. Interacts with GRIK2 (By similarity)
Subcellular location: Perikaryon. Cell projection, axon (By similarity). Cytoplasm (By similarity)
Sequence caution: Sequence=BAA90921.1; Type=Erroneous initiation; Sequence=BAB15447.1; Type=Miscellaneous discrepancy;
Note=Aberrant splicing;
Secondary accessions: A5PLN8 Q9H620 Q9NXT9
Alternative splicing: 2 isoforms:  Q6TFL4-1   Q6TFL4-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KLHL24: NX_Q6TFL4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6TFL4

  • KLHL24 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_060114.2  
    ENSEMBL proteins: 
     ENSP00000242810   ENSP00000417347   ENSP00000408516   ENSP00000416836   ENSP00000419120  
     ENSP00000420207   ENSP00000408567   ENSP00000417275   ENSP00000395012   ENSP00000418922  
     ENSP00000419010  

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    Uscn Proteins for KLHL24

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0030424axon IEA--
    GO:0043204perikaryon IEA--


    KLHL24 for ontologies           About GeneDecksing



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

    KLHL24 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR017096 Kelch-like_gigaxonin
     IPR000210 BTB/POZ-like
     IPR006652 Kelch_1
     IPR011333 BTB/POZ_fold
     IPR015916 Gal_Oxidase_b-propeller

    Graphical View of Domain Structure for InterPro Entry Q6TFL4

    ProtoNet protein and cluster: Q6TFL4

    2 Blocks protein families:
    IPB000210 BTB/POZ domain
    IPB011705 BTB/Kelch-associated


    UniProtKB/Swiss-Prot: KLH24_HUMAN, Q6TFL4
    Similarity: Contains 1 BACK (BTB/Kelch associated) domain
    Similarity: Contains 1 BTB (POZ) domain
    Similarity: Contains 6 Kelch repeats


    (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: KLH24_HUMAN, Q6TFL4
    Function: Specifically reduces kainate receptor-mediated currents in hippocampal neurons, most probably by modulating
    channel properties (By similarity)

    miRNA
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    hsa-miR-576-3p hsa-miR-579 hsa-miR-607 hsa-miR-1260b hsa-miR-30d hsa-miR-3653 hsa-miR-342-3p hsa-miR-4275
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHL24

    1 GenomeRNAi human phenotype for KLHL24:
     Actin fiber cells 


    (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 KLHL24

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    4 Interacting proteins for KLHL24 (Q6TFL43 ENSP000002428104) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COPS5Q929053, ENSP000003505124I2D: score=2 STRING: ENSP00000350512
    COPS6Q7L5N13, ENSP000003041024I2D: score=2 STRING: ENSP00000304102
    FYCO1Q9BQS83I2D: score=1 
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    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 KLHL24
    Search CenterWatch for drugs/clinical trials and news about KLHL24 / KLH24 

    (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 KLHL24 gene: 
    NM_017644.3  

    Unigene Cluster for KLHL24:

    Kelch-like 24 (Drosophila)
    Hs.407709  [show with all ESTs]
    Unigene Representative Sequence: NM_017644
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000242810 ENST00000493074 ENST00000437402 ENST00000454495 ENST00000461813
    ENST00000473045 ENST00000468101 ENST00000427201 ENST00000482138 ENST00000454652(uc003flv.3 uc003flw.3)
    ENST00000481126 ENST00000475827 ENST00000468001 ENST00000476808(uc003flx.3)
    ENST00000492409

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KLHL24
    8/89 QIAGEN miScript miRNA Assays for microRNAs that regulate KLHL24 (see all 89):
    hsa-miR-576-3p hsa-miR-579 hsa-miR-607 hsa-miR-1260b hsa-miR-30d hsa-miR-3653 hsa-miR-342-3p hsa-miR-4275
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Additional cDNA sequence: 

    AK024270.1 AK026326.1 AK098662.1 AY422472.1 BC142993.1 BX648466.1 BX648812.1 DQ925701.1 

    11 DOTS entries:

    DT.97823461  DT.97819697  DT.86836411  DT.211826  DT.95366851  DT.91708990  DT.99996614  DT.40296602 
    DT.97806228  DT.120899573  DT.86839446 

    24/87 AceView cDNA sequences (see all 87):

    AI919185 AA897658 AK098662 CF139527 AA283143 AA743489 BX485702 BU608337 
    AW003730 AW001771 CK902487 NM_017644 AA714790 CK902488 AA282914 AY422472 
    AI889572 AI494013 BX648466 T57430 N80089 AI375165 AW006750 N64655 

    GeneLoc Exon Structure

    5/14 Alternative Splicing Database (ASD) splice patterns (SP) for KLHL24 (see all 14)    About this scheme

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


    ECgene alternative splicing isoforms for KLHL24

    (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

    KLHL24 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTTGTTTAA

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

    About this image
    See KLHL24 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KLHL24

    SOURCE GeneReport for Unigene cluster: Hs.407709
        SABiosciences Expression via Pathway-Focused PCR Array including KLHL24: 
              Ubiquitin Ligases in human mouse rat

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    In Situ
    Assay Products:
     

     
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    (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 KLHL24 gene from 3/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves KLHL241 kelch-like 24 (Drosophila) 81.84(n)
    96.75(a)
      424763  NM_001031304.1  NP_001026475.1 
    lizard
    (Anolis carolinensis)
    Reptilia KLHL246
    --
    95(a)
    1 ↔ 1
    3(37835509-37844204)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc636062 hypothetical protein MGC63606 79.16(n)   393412  BC054921.1 


    ENSEMBL Gene Tree for KLHL24 (if available)
    TreeFam Gene Tree for KLHL24 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KLHL24 gene
    KLHL382  KLHL212  KLHL292  KLHL62  KLHL232  KBTBD32  KLHL112  ENC12  
    KLHL252  KLHL302  KLHL352  CCIN2  
    18/34 SIMAP similar genes for KLHL24 using alignment to 9 protein entries:     KLH24_HUMAN (see all proteins) (see all similar genes):
    KLHL14    KBTBD2    FLJ00029    KBTBD3    ZBTB7C    ZNF131
    KLHL6    SPOP    KLHL3    KLHL2    KBTBD8    KLHL20
    KLHL35    BACH2    KLHL17    KLHL29    KLHL32    KLHL36

    KLHL24 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

    10/976 NCBI SNPs in KLHL24 are shown (see all 976    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs571400581,2
    C--180764250(+) TTTTT-/CTTTTTT
    TTTTTTTTT
    TTGAG
    1 -- int11Minor allele frequency- CTTTTTTTTTTTTTTT:0.00NA 2
    rs1484773091,2
    --183351578(+) AAGCAC/GTATCT 1 -- us2k10--------
    rs1441643901,2
    --183351666(+) TGATGA/GTATTT 1 -- us2k10--------
    rs1862463961,2
    --183351678(+) TAGACA/GTGAAA 1 -- us2k10--------
    rs1460590311,2
    --183351712(+) TGGACC/GTTTTC 1 -- us2k10--------
    rs774783871,2
    F,--183351719(+) TTTCTT/CAGGAA 1 -- us2k11Minor allele frequency- C:0.02WA 118
    rs1400452441,2
    --183351855(+) AACTGC/TGGACC 1 -- us2k10--------
    rs105686301,2
    C--183351887(+) CAGAT-/ACACACA 1 -- us2k10--------
    rs346900621,2
    C--183351927(+) ACACACA/-TACAC 1 -- us2k11Minor allele frequency- -:0.00NA 2
    rs773463311,2
    --183352009(+) TAAGAG/AGACAT 1 -- us2k11Minor allele frequency- A:0.01EA 120

    HapMap Linkage Disequilibrium report for KLHL24 (183353356 - 183402307 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for KLHL24
         1 CNV: 23672
         1 Indel: 68512

    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

    KLHL24 for disorders           About GeneDecksing

    OMIM gene information: 611295    OMIM disorders: --

    4 diseases for KLHL24:    About MalaCards
    urethral stricture    neurogenic bladder    urethritis    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for KLHL24:
    Urethral stricture     Neurogenic bladder

    Export disorders for KLHL24 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 KLHL24 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with KLHL24)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    2. 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)
    3. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    4. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    5. Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (2009)
    6. The BTB/kelch protein, KRIP6, modulates the interaction of PICK1 with GluR6 kainate receptors. (PubMed id 18692513)1 Laezza F....Huettner J.E. (2008)
    7. KRIP6: a novel BTB/kelch protein regulating function of kainate receptors. (PubMed id 17254796)1 Laezza F....Craig A.M. (2007)
    8. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    9. 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)
    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)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 54800 HGNC: 25947 AceView: DRE1 Ensembl:ENSG00000114796 euGenes: HUgn54800
    ECgene: KLHL24 H-InvDB: KLHL24

    (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 KLHL24 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 KLHL24 gene:
    Search GeneIP for patents involving KLHL24

    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),
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