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

TRIM72 Gene

protein-coding   GIFtS: 46
GCID: GC16P031220

tripartite motif containing 72

(Previous name: tripartite motif-containing 72 )
 Explore 3 diseases affiliated with
TRIM72 via our new
 Human Malady Compendium 
Biological research products
for TRIM72
    

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

Aliases
Tripartite Motif Containing 721 2     Tripartite Motif-Containing Protein 722
MG532 3 5     Mg533
Tripartite Motif-Containing 721 2     Mitsugumin-533
Mitsugumin-533     

External Ids:    HGNC: 326711   Entrez Gene: 4938292   Ensembl: ENSG000001772387   OMIM: 6132885   UniProtKB: Q6ZMU53   

Export aliases for TRIM72 gene to outside databases

Previous GC identifers: GC16P031119 GC16P031025 GC16P031084 GC16P028786


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

UniProtKB/Swiss-Prot: TRI72_HUMAN, Q6ZMU5
Function: Muscle-specific protein that plays a central role in cell membrane repair by nucleating the assembly of the
repair machinery at injury sites. Specifically binds phosphatidylserine. Acts as a sensor of oxidation: upon membrane
damage, entry of extracellular oxidative environment results in disulfide bond formation and homooligomerization at
the injury site. This oligomerization acts as a nucleation site for recruitment of TRIM72-containing vesicles to the
injury site, leading to membrane patch formation. Probably acts upstream of the Ca(2+)-dependent membrane resealing
process. Required for transport of DYSF to sites of cell injury during repair patch formation. Regulates membrane
budding and exocytosis. May be involved in the regulation of the mobility of KCNB1-containing endocytic vesicles (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_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TRIM72 gene promoter:
         E2F-4   E2F-3a   E2F-5   p53   MIF-1   E2F-2   E2F   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTRIM72 promoter sequence
   Search SABiosciences Chromatin IP Primers for TRIM72

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TRIM72


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

Entrez Gene cytogenetic band: 16p11.2   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p11.2

TRIM72 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TRIM72 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P031220:  view genomic region     (about GC identifiers)

Start:
31,225,342 bp from pter      End:
31,236,510 bp from pter
Size:
11,169 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: TRI72_HUMAN, Q6ZMU5 (See protein sequence)
Recommended Name: Tripartite motif-containing protein 72  
Size: 477 amino acids; 52731 Da
Subunit: Homooligomer; disulfide-linked. Interacts with DYSF and CAV3 (By similarity)
Subcellular location: Cell membrane, sarcolemma (By similarity). Cytoplasmic vesicle membrane (By similarity).
Note=Tethered to plasma membrane and cytoplasmic vesicles via its interaction with phosphatidylserine (By similarity)
Sequence caution: Sequence=BAC03506.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for TRIM72:
3KB5 (3D)    
Secondary accessions: Q8N4X6 Q8NBD9
Alternative splicing: 2 isoforms:  Q6ZMU5-1   Q6ZMU5-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TRIM72: NX_Q6ZMU5

Post-translational modifications:

  • Disulfide bond formation at Cys-242 occurs in case of membrane damage that cause the entry of the oxidized milieu of
  • the extracellular space, resulting in homooligomerization (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6ZMU5

  • TRIM72 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001008275.2  
    ENSEMBL proteins: 
     ENSP00000312675  

    Human Recombinant Protein Products: 
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    Novus Biologicals TRIM72 Proteins
    Novus Biologicals TRIM72 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TRIM72

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030659cytoplasmic vesicle membrane ISS--
    GO:0042383sarcolemma ISS--


    TRIM72 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for TRIM72


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

    TRIM72 for domains           About GeneDecksing

    5/9 InterPro domains/families (see all 9):
     IPR006574 PRY
     IPR017907 Znf_RING_CS
     IPR001841 Znf_RING
     IPR001870 B30.2/SPRY
     IPR003877 SPRY_rcpt

    Graphical View of Domain Structure for InterPro Entry Q6ZMU5

    ProtoNet protein and cluster: Q6ZMU5

    4 Blocks protein families:
    IPB000315 B-box zinc finger signature
    IPB001841 Zn-finger
    IPB003879 Butyrophylin C-terminal DUF signature
    IPB006574 SPRY-associated domain


    UniProtKB/Swiss-Prot: TRI72_HUMAN, Q6ZMU5
    Similarity: Belongs to the TRIM/RBCC family
    Similarity: Contains 1 B box-type zinc finger
    Similarity: Contains 1 B30.2/SPRY domain
    Similarity: Contains 1 RING-type zinc finger


    (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: TRI72_HUMAN, Q6ZMU5
    Function: Muscle-specific protein that plays a central role in cell membrane repair by nucleating the assembly of the
    repair machinery at injury sites. Specifically binds phosphatidylserine. Acts as a sensor of oxidation: upon membrane
    damage, entry of extracellular oxidative environment results in disulfide bond formation and homooligomerization at
    the injury site. This oligomerization acts as a nucleation site for recruitment of TRIM72-containing vesicles to the
    injury site, leading to membrane patch formation. Probably acts upstream of the Ca(2+)-dependent membrane resealing
    process. Required for transport of DYSF to sites of cell injury during repair patch formation. Regulates membrane
    budding and exocytosis. May be involved in the regulation of the mobility of KCNB1-containing endocytic vesicles (By
    similarity)

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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRIM72

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001786phosphatidylserine binding ISS--
    GO:0008270zinc ion binding IEA--


    TRIM72 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for TRIM72: Trim72tm1Ygko Trim72tm1Hta
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Trim72):
     behavior/neurological  muscle 

    TRIM72 for phenotypes           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 TRIM72

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

    1 Interacting protein for TRIM72 (Q6ZMU53 ENSP000003126754) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBE2IP632793, ENSP000003248974I2D: score=2 STRING: ENSP00000324897
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001778plasma membrane repair ISS--
    GO:0003012muscle system process ISS--
    GO:0006887exocytosis IEA--
    GO:0007517muscle organ development ISS--
    GO:0051260protein homooligomerization ISS--


    TRIM72 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 TRIM72
    Search CenterWatch for drugs/clinical trials and news about TRIM72 / TRI72 

    (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 TRIM72 gene: 
    NM_001008274.3  

    Unigene Cluster for TRIM72:

    Tripartite motif containing 72
    Hs.661859  [show with all ESTs]
    Unigene Representative Sequence: NM_001008274
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000322122(uc002ebn.2)

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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TRIM72 (see all 7)
    OriGene shRNA RFP: TRIM72
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    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TRIM72
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TRIM72

    Additional cDNA sequence: 

    AK090695.1 AK131485.1 BC033211.1 

    3 DOTS entries:

    DT.91700681  DT.102821284  DT.100011125 

    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

    TRIM72 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCTGTAAACC

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

    About this image
    See TRIM72 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TRIM72

    SOURCE GeneReport for Unigene cluster: Hs.661859
        SABiosciences Expression via Pathway-Focused PCR Array including TRIM72: 
              Ubiquitin Ligases in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRIM72

    (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 TRIM72 gene from 1/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia TRIM726
    --
    60(a)
    1 ↔ 1
    GL343220.1(2373696-2382123)


    ENSEMBL Gene Tree for TRIM72 (if available)
    TreeFam Gene Tree for TRIM72 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TRIM72 gene
    TRIM502  TRIM312  TRIM732  TRIM692  TRIM742  TRIM522  TRIM352  TRIM412  
    TRIM622  
    10 SIMAP similar genes for TRIM72 using alignment to 1 protein entry:     TRI72_HUMAN:
    BRCA1    TRIM50    BTNL9    TRIM62    TRIM39    TRIM27
    TRIM11    TRIM21    TRIM69    TRIM73

    TRIM72 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

    10/154 NCBI SNPs in TRIM72 are shown (see all 154    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1145172001,2
    C,F,--31223357(+) AAATCA/GGGGAA 1 -- us2k11Minor allele frequency- G:0.04WA 118
    rs1842845951,2
    --31223363(+) GGGAAC/TTGGGA 1 -- us2k10--------
    rs1889992021,2
    --31223429(+) GCCATA/GCAGTA 1 -- us2k10--------
    rs1415731161,2
    --31223536(+) TGATTA/GATGGG 1 -- us2k10--------
    rs118657301,2
    C,F,H,--31223549(+) CATAGC/TAGATA 1 -- us2k1 tfbs311Minor allele frequency- T:0.01NS EA NA 1374
    rs1864230941,2
    --31223578(+) TTAGCA/GCTTTG 1 -- us2k10--------
    rs2004100751,2
    --31223634(+) TATTG-/TTTTTT 1 -- us2k10--------
    rs1920924451,2
    --31223720(+) TCCCAA/GGTTCA 1 -- us2k10--------
    rs1502960211,2
    --31223750(+) CCTCCC/TGAGCA 1 -- us2k10--------
    rs1378567281,2
    --31223816(+) TCGCTC/TTTGTC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for TRIM72 (31225342 - 31236510 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TRIM72: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TRIM72
    DNA2.0 Custom Variant and Variant Library Synthesis for TRIM72

    (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

    TRIM72 for disorders           About GeneDecksing

    OMIM gene information: 613288    OMIM disorders: --

    3 diseases for TRIM72:    About MalaCards
    systemic lupus erythematosus    lupus erythematosus    muscular dystrophy

    1 disease from the University of Copenhagen DISEASES database for TRIM72:
    Muscular dystrophy
    Human Genome Epidemiology (HuGE) Navigator: TRIM72 (1 document)

    Export disorders for TRIM72 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 TRIM72 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with TRIM72)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Crystal structure of PRY-SPRY domain of human TRIM72. (PubMed id 19967786)1, 2 Park E.Y....Song H.K. (2010)
    2. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)1, 2 Martin J.... Pennacchio L.A. (2004)
    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. Nonmuscle myosin IIA facilitates vesicle trafficking f or MG53-mediated cell membrane repair. (PubMed id 22253476)1 Lin P....Ma J. (2012)
    6. Dysferlin, annexin A1, and mitsugumin 53 are upregula ted in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch. (PubMed id 21412170)1 Waddell L.B....Cooper S.T. (2011)
    7. Polymerase transcriptase release factor (PTRF) anchor s MG53 protein to cell injury site for initiation of membrane repair. (PubMed id 21343302)1 Zhu H....Ma J. (2011)
    8. Analysis of the human E2 ubiquitin conjugating enzyme protein interaction network. (PubMed id 19549727)1 Markson G....Sanderson C.M. (2009)
    9. Evaluation of imputation-based association in and around the integrin-alpha-M (ITGAM) gene and replication of robust association between a non-synonymous functional variant within ITGAM and systemic lupus erythematosus (SLE). (PubMed id 19129174)1 Han S....Nath S.K. (2009)
    10. 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)

    (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: 493829 HGNC: 32671 Ensembl:ENSG00000177238 euGenes: HUgn493829 ECgene: TRIM72
    H-InvDB: TRIM72

    (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 TRIM72 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 TRIM72 gene:
    Search GeneIP for patents involving TRIM72

    GeneCards and IP:
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     TRIM72 Proteins, Antibodies, CLIAs, and ELISAs
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     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TRIM72
           
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