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GGT3P Gene

pseudogene   GIFtS: 33
GCID: GC22M018765

Gamma-Glutamyltransferase 3 Pseudogene

(Previous name: gamma-glutamyltransferase 3)
(Previous symbol: GGT3)
  See GGT3P-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Gamma-Glutamyltransferase 3 Pseudogene1 2     EC 3.4.19.133
GGT31 2 3     GGT 33
Gamma-Glutamyltransferase 31 3     Glutathione Hydrolase 33
EC 2.3.2.23 8     

External Ids:    HGNC: 42521   Entrez Gene: 26792   Ensembl: ENSG000001974217   UniProtKB: A6NGU53   

Export aliases for GGT3P gene to outside databases

Previous GC identifer: GC22M017143


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for GGT3P Gene:
GGT3P (gamma-glutamyltransferase 3 pseudogene) is a pseudogene. Diseases associated with GGT3P include benign recurrent intrahepatic cholestasis, and hyperthyroxinemia. GO annotations related to this gene include glutathione hydrolase activity and gamma-glutamyltransferase activity.

UniProtKB/Swiss-Prot: GGT3_HUMAN, A6NGU5
Function: Initiates extracellular glutathione (GSH) breakdown; catalyzes the transfer of the glutamyl moiety of
glutathione to amino acids and dipeptide acceptors (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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NC_018933.2  NT_011520.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the GGT3P gene promoter:
         AhR   HOXA9   HOXA9B   GATA-2   Arnt   Meis-1b   IRF-2   CBF-A   CBF(2)   Meis-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for GGT3P

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GGT3P


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

Entrez Gene cytogenetic band: 22q11.21   Ensembl cytogenetic band:  22q11.21   HGNC cytogenetic band: 22q11.21

GGT3P Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GGT3P gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M018765:  view genomic region     (about GC identifiers)

Start:
18,761,178 bp from pter      End:
18,830,912 bp from pter
Size:
69,735 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: GGT3_HUMAN, A6NGU5 (See protein sequence)
Recommended Name: Putative gamma-glutamyltranspeptidase 3 precursor  
Size: 568 amino acids; 61502 Da
Miscellaneous: In some epileptic patients treated with phenytoin, phenobarbital and carbamazepin, GGT3 is found,
as an additional form of GGT. This group of patients has levels of ceruloplasmin and oxidase activity that were
significantly higher than in the group of patients without GGT3. However, levels of ceruloplasmin and oxidase
activity are significantly higher in this group of patients without GGT3 than those of the control group
Caution: Could be the product of a pseudogene. According to PubMed:18357469, it is not functional

Explore the universe of human proteins at neXtProt for GGT3P: NX_A6NGU5

Post-translational modifications: 

  • Cleaved by autocatalysis into a large and a small subunit (By similarity)1
  • Glycosylation2 at Asn95, Asn120, Asn230, Asn266, Asn297, Asn344, Asn510
  • Selected DME Specific Peptides for GGT3P (A6NGU5) (see all 14)
     LCEVFCR  TIYNSTT  PSPANFI  VVQAIVRT 


    GGT3P Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for GGT3P 
    antibodies-online kits for GGT3P (2 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GGT: Gamma-glutamyltransferases

    1 InterPro protein domain:
     IPR000101 GGT_peptidase

    Graphical View of Domain Structure for InterPro Entry A6NGU5

    ProtoNet protein and cluster: A6NGU5

    UniProtKB/Swiss-Prot: GGT3_HUMAN, A6NGU5
    Similarity: Belongs to the gamma-glutamyltransferase family


    Find genes that share domains with GGT3P           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GGT3_HUMAN, A6NGU5
    Function: Initiates extracellular glutathione (GSH) breakdown; catalyzes the transfer of the glutamyl moiety of
    glutathione to amino acids and dipeptide acceptors (By similarity)
    Catalytic activity: A (5-L-glutamyl)-peptide + an amino acid = a peptide + a 5-L-glutamyl amino acid
    Catalytic activity: Glutathione + H(2)O = L-cysteinylglycine + L-glutamate

         Enzyme Numbers (IUBMB): EC 2.3.2.21 2 EC 3.4.19.131

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003840gamma-glutamyltransferase activity TAS18357469
    GO:0036374glutathione hydrolase activity IEA--
         
    Find genes that share ontologies with GGT3P           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for GGT3P

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GGT3_HUMAN, A6NGU5: Membrane; Single-pass type II membrane protein (By similarity)

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--
    GO:0031362anchored component of external side of plasma membrane TAS18357469

    Find genes that share ontologies with GGT3P           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    UniProtKB/Swiss-Prot: GGT3_HUMAN, A6NGU5
    Pathway: Sulfur metabolism; glutathione metabolism

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GGT3P
    Interactions:

        Search GeneGlobe Interaction Network for GGT3P

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006749glutathione metabolic process TAS18357469
    GO:0006750glutathione biosynthetic process IEA--
    GO:0019370leukotriene biosynthetic process ISS--

    Find genes that share ontologies with GGT3P           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GGT3P (GGT3)

    2 HMDB Compounds for GGT3P    About this table
    CompoundSynonyms CAS #PubMed Ids
    Leukotriene C5LTC(,5) 75207-09-9--
    Leukotriene D5LTD(,5) ----



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    Unigene Cluster for GGT3P:

    Gamma-glutamyltransferase 3 pseudogene
    Hs.595809  [show with all ESTs]
    Unigene Representative Sequence: NR_003267
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000412448(uc010gri.1 uc011ago.1 uc011agp.1 uc002zob.1)
    ENST00000453783 ENST00000445651 ENST00000430306
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat GGT3P

    Additional mRNA sequence: 

    BC108264.1 BC143607.1 NR_003267.1 

    13 DOTS entries:

    DT.120642084  DT.100034647  DT.120642058  DT.120642063  DT.75136348  DT.100669183  DT.100843149  DT.102839611 
    DT.120668227  DT.87016250  DT.100016221  DT.100669181  DT.70103474 

    Selected AceView cDNA sequences (see all 35):

    CR613324 BU584289 BV198360 BQ016232 AA775790 BV181075 BV193587 BV198359 
    BV198943 BV199127 BV176035 BV196122 BF884661 M30474 CD620126 BV185406 
    AA917932 BU584622 H27285 AW611477 AW242750 BE171984 BF515607 AI222095 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GGT3P expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    GGT3P Expression
    About this image

    GGT3P Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

    SOURCE GeneReport for Unigene cluster: Hs.595809
        Custom PCR Arrays for GGT3P
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GGT3P

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for GGT3P gene from 1 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia CF593197.12   -- 74.16(n)    CF593197.1 


    ENSEMBL Gene Tree for GGT3P (if available)
    TreeFam Gene Tree for GGT3P (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GGT3P gene
    8 SIMAP similar genes for GGT3P using alignment to 1 protein entry:     GGT3_HUMAN:
    GGTLC3    GGT2    GGT    GGT1    GGTLC1    GGTLC2
    GGTLA4    GGT5

    Find genes that share paralogs with GGT3P           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GGT3P (see all 360)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2021002491,2
    F--18762635(+) TCATCC/TGGCGT 1 -- nc-transcript-variant1Minor allele frequency- T:0.01EU 269
    rs2013031171,2
    F--18762712(+) GGCAGC/TGAAGA 1 -- nc-transcript-variant1Minor allele frequency- T:0.11EU 247
    rs2012736221,2
    C--18763214(+) TGGAAA/TGTGGC 1 -- int10--------
    rs2014551991,2
    C--18763237(+) TGCAAA/GGGCCC 1 -- int10--------
    rs712420771,2
    C--18763277(+) TAGGCG/AGAGAG 1 -- int11Minor allele frequency- A:0.50NA 2
    rs712420791,2
    C--18763400(+) GCAGAG/AGAATG 1 -- int11Minor allele frequency- A:0.50NA 2
    rs2007218371,2
    C--18763460(+) GATAAA/GGATAA 1 -- int10--------
    rs2000924071,2
    C--18765116(+) GGAAAA/TGGGAA 1 -- int10--------
    rs2018508961,2
    C--18765163(+) TTTTGC/G/TAGGTG 1 -- int10--------
    rs2010675621,2
    C--18765165(+) TTGTAA/GGTGCG 1 -- int10--------

    HapMap Linkage Disequilibrium report for GGT3P (18761178 - 18830912 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for GGT3P (see all 18):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422290CNV Deletion17116639
    nsv821058CNV Duplication20802225
    dgv19e196CNV Duplication17116639
    nsv471339CNV Duplication19718026
    esv2751935CNV Loss17911159
    nsv469578CNV Gain16826518
    dgv4822n71CNV Gain21882294
    dgv4820n71CNV Gain21882294
    nsv914164CNV Gain21882294
    dgv173e55CNV Gain17911159

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing GGT3P
    DNA2.0 Custom Variant and Variant Library Synthesis for GGT3P

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    3 diseases for GGT3P:    
    About MalaCards
    benign recurrent intrahepatic cholestasis    hyperthyroxinemia    stickler syndrome


    Find genes that share disorders with GGT3P           About GenesLikeMe

    1 Novoseek inferred disease relationship for GGT3P gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cholestasis intrahepatic 72 5 20038848 (4), 11867191 (1)


    Export disorders for GGT3P 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)
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    PubMed articles for GGT3P gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with GGT3P)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human gamma-glutamyltransferase gene family. (PubMed id 18357469)1, 2, 3 Heisterkamp N.... Sneddon T.P. (Hum. Genet. 2008)
    2. Mapping of human gamma-glutamyl transpeptidase genes on chromosome 22 and other human autosomes. (PubMed id 8104871)1, 3 Figlewicz D.A....Rouleau G.A. (Genomics 1993)
    3. siRNA knock-down of gamma-glutamyl transpeptidase does not affect hypoxic K+ channel inhibition. (PubMed id 14715246)1 Williams S.E....Kemp P.J. (Biochem. Biophys. Res. Commun. 2004)
    4. Assessment of copper status in epileptic patients treated with anticonvulsant drugs by measuring the specific oxidase activity of ceruloplasmin. (PubMed id 14642999)2 Tutor-Crespo M.J.... Tutor J.C. (Epilepsy Res. 2003)
    5. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    6. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. (PubMed id 10737800)1 Dias Neto E....Simpson A.J.G. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    7. The DNA sequence of human chromosome 22. (PubMed id 10591208)2 Dunham I.... Wright H. (Nature 1999)
    8. Different gamma-glutamyl transpeptidase mRNAs are expressed in human liver and kidney. (PubMed id 2573352)1 Pawlak A.... Guellaen G. (Biochem. Biophys. Res. Commun. 1989)
    9. Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT. (PubMed id 20038848)9 Liu L.Y....Wang J.S. (J. Pediatr. Gastroenterol. Nutr. 2010)
    10. Characterization of the extracellular gamma-glutamyl transpeptidases, GGT1 and GGT2, in Arabidopsis. (PubMed id 17316175)9 Ohkama-Ohtsu N....Oliver D.J. (Plant J. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 2679 HGNC: 4252 AceView: GGT2.1 Ensembl:ENSG00000197421 euGenes: HUgn2679
    ECgene: GGT3P H-InvDB: GGT3P

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GGT3P gene:
    Search GeneIP for patents involving GGT3P

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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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     Block miRNA regulation of human, mouse, rat GGT3P using miScript Target Protectors SeqTarget long-range PCR primers for resequencing GGT3P
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     Browse ESI BIO Cell Lines and PureStem Progenitors for GGT3P
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     Browse compounds at ApexBio
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     genOway: Develop your customized and physiologically relevant rodent model for GGT3P
      Search antibodies-online for antibodies for GGT3P
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      Search antibodies-online for peptides for GGT3P
     antibodies-online proteins for GGT3P
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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