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

GRXCR1 Gene

protein-coding   GIFtS: 44
GCID: GC04P042895

Glutaredoxin, Cysteine Rich 1

(Previous names: deafness, autosomal recessive 25)
(Previous symbol: DFNB25)
  See 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)
About This Section

Aliases
Glutaredoxin, Cysteine Rich 11 2
DFNB251 2 3
Deafness, Autosomal Recessive 251
Glutaredoxin Domain-Containing Cysteine-Rich Protein 12

External Ids:    HGNC: 316731   Entrez Gene: 3892072   Ensembl: ENSG000002152037   OMIM: 6132835   UniProtKB: A8MXD53   

Export aliases for GRXCR1 gene to outside databases

Previous GC identifers: GC04P042591 GC04P042217


(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 GRXCR1 Gene:
This gene is one of 60 loci associated with autosomal-recessive nonsyndromic hearing impairment. This gene encodes
a protein which contains GRX-like domains; these domains play a role in the S-glutathionylation of proteins and
may be involved in actin organization in hair cells. (provided by RefSeq, Sep 2010)

GeneCards Summary for GRXCR1 Gene: 
GRXCR1 (glutaredoxin, cysteine rich 1) is a protein-coding gene. Diseases associated with GRXCR1 include deafness, autosomal recessive 25, and nonsyndromic deafness. GO annotations related to this gene include protein disulfide oxidoreductase activity and molecular_function. An important paralog of this gene is GRXCR2.

UniProtKB/Swiss-Prot: GRCR1_HUMAN, A8MXD5
Function: May play a role in actin filament architecture in developing stereocilia of sensory cells (By
similarity)

Gene Wiki entry for GRXCR1 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.2  NT_006238.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GRXCR1 gene promoter:
         LHX3b/Lhx3b   AP-1   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   NF-kappaB   POU3F2   Pax-3   NF-kappaB2   LHX3a/Lhx3a   NF-kappaB1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for GRXCR1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GRXCR1


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

Entrez Gene cytogenetic band: 4p13   Ensembl cytogenetic band:  4p13   HGNC cytogenetic band: 4p14

GRXCR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GRXCR1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P042895:  view genomic region     (about GC identifiers)

Start:
42,895,283 bp from pter      End:
43,032,675 bp from pter
Size:
137,393 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GRCR1_HUMAN, A8MXD5 (See protein sequence)
Recommended Name: Glutaredoxin domain-containing cysteine-rich protein 1  
Size: 290 amino acids; 32294 Da
Subcellular location: Cell projection, stereocilium (By similarity). Cell projection, microvillus (By similarity).
Cell projection, kinocilium (By similarity). Note=In the inner ear, localized to stereocilia, apical microvilli
of sensory cells and kinocilia (By similarity)

Explore the universe of human proteins at neXtProt for GRXCR1: NX_A8MXD5

Explore proteomics data for GRXCR1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_A8MXD5

  • GRXCR1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GRXCR1 Protein Expression
    REFSEQ proteins: NP_001073945.1  
    ENSEMBL proteins: 
     ENSP00000382670  

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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GRXCR1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0032420stereocilium ISS--
    GO:0060091kinocilium ISS--

    GRXCR1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR002109 Glutaredoxin
     IPR012336 Thioredoxin-like_fold

    Graphical View of Domain Structure for InterPro Entry A8MXD5

    ProtoNet protein and cluster: A8MXD5

    UniProtKB/Swiss-Prot: GRCR1_HUMAN, A8MXD5
    Similarity: Belongs to the GRXCR1 family
    Similarity: Contains 1 glutaredoxin domain


    GRXCR1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GRCR1_HUMAN, A8MXD5
    Function: May play a role in actin filament architecture in developing stereocilia of sensory cells (By
    similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0009055electron carrier activity IEA--
    GO:0015035protein disulfide oxidoreductase activity IEA--
    GO:0031072heat shock protein binding ----
    GO:0051082unfolded protein binding ----
         
    GRXCR1 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Grxcr1):
     behavior/neurological  hearing/vestibular/ear  nervous system 

    GRXCR1 for phenotypes           About GeneDecksing

    Animal Models:
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GRXCR1

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

    1 Interacting protein for GRXCR1 (ENSP000003826704) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP1CAENSP000003260314STRING: ENSP00000326031
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007605sensory perception of sound ISS--
    GO:0010923negative regulation of phosphatase activity IDA19389623
    GO:0042491auditory receptor cell differentiation IEA--
    GO:0045454cell redox homeostasis IEA--
    GO:0048563post-embryonic organ morphogenesis IEA--

    GRXCR1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 GRXCR1 (GRCR1)

    Search CenterWatch for drugs/clinical trials and news about GRXCR1 / GRCR1

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GRXCR1 gene: 
    NM_001080476.2  

    Unigene Cluster for GRXCR1:

    Glutaredoxin, cysteine rich 1
    Hs.162559  [show with all ESTs]
    Unigene Representative Sequence: NM_001080476
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000399770(uc003gwt.3)
    miRNA
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    hsa-miR-3662
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    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GRXCR1

    1 DOTS entry:

    DT.40208915 

    10 AceView cDNA sequences:

    BX108344 AI927557 AA588868 BG213384 BG204989 BG183783 BG208152 BG194699 
    BG212337 BG216194 

    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

    GRXCR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTCGAAACT
    GRXCR1 Expression
    About this image


    See GRXCR1 Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.162559

    UniProtKB/Swiss-Prot: GRCR1_HUMAN, A8MXD5
    Tissue specificity: Expressed at low levels in adult lung, brain and duodenum with moderate levels in testis.
    Highly expressed in fetal cochlea

        SABiosciences Custom PCR Arrays for GRXCR1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GRXCR1

    (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 eukaryotes.

    Orthologs for GRXCR1 gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Grxcr11 , 5 glutaredoxin, cysteine rich 11, 5 87.38(n)1
    93.06(a)1
      5 (36.59 cM)5
    4338991  NM_001018019.21  NP_001018019.21 
     680318355 
    chicken
    (Gallus gallus)
    Aves GRXCR11 glutaredoxin, cysteine rich 1 77.74(n)
    81.66(a)
      770624  XM_001233962.2  XP_001233963.2 
    lizard
    (Anolis carolinensis)
    Reptilia GRXCR16
    Uncharacterized protein
    75(a)
    1 ↔ 1
    5(101513095-101584449)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003328731 glutaredoxin domain-containing cysteine-rich protein more 65.71(n)
    68.21(a)
      100332873  XM_002664455.1  XP_002664501.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG315596
    CG122066
    --
    19(a)
    14(a)
    many ↔ many
    many ↔ many
    3R(1975838-1982949)
    X(3359770-3368553)
    worm
    (Caenorhabditis elegans)
    Secernentea Y46E12A.31 Protein Y46E12A.3 48.17(n)
    34.07(a)
      175323  NM_065052.1  NP_497453.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G570701 Glutaredoxin family protein 45.5(n)
    38.51(a)
      824874  NM_115566.3  NP_567043.2 


    ENSEMBL Gene Tree for GRXCR1 (if available)
    TreeFam Gene Tree for GRXCR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GRXCR1 gene
    GRXCR22  

    GRXCR1 for paralogs           About GeneDecksing



    (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) 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

    10/3063 SNPs in GRXCR1 are shown (see all 3063)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0631654
    Deafness, autosomal recessive, 25 (DFNB25)4--see VAR_0631652 F V mis40--------
    VAR_0631644
    Deafness, autosomal recessive, 25 (DFNB25)4--see VAR_0631642 R C mis40--------
    VAR_0631624
    Deafness, autosomal recessive, 25 (DFNB25)4--see VAR_0631622 G S mis40--------
    VAR_0631604
    Deafness, autosomal recessive, 25 (DFNB25)4--see VAR_0631602 P L mis40--------
    rs2676068561,2
    Cpathogenic142848084(+) TTGACC/TGTGTA 2 R C mis10--------
    VAR_0631614
    ----see VAR_0631612 G E mis40--------
    rs1501488181,2
    C--42227605(+) TACAC-/ATGTTTT 1 -- int10--------
    rs675837251,2
    C--42227766(+) TTTTT-/TT/TTT
            
    AGACG
    2 -- int1 cds12NA 4
    rs131255971,2
    F--42227803(+) gtggcG/Atgatc 1 -- int11Minor allele frequency- A:0.00NA 2
    rs131312031,2
    F--42227804(+) tggcaC/Tgatct 1 -- int12Minor allele frequency- T:0.50NA 4

    HapMap Linkage Disequilibrium report for GRXCR1 (42895283 - 43032675 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for GRXCR1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2727495CNV Deletion23290073
    esv2727494CNV Deletion23290073
    esv2658687CNV Deletion23128226
    esv5262CNV Deletion18987735
    dgv872n67CNV Loss20364138
    esv7471CNV Loss19470904
    nsv291473CNV Loss16902084
    nsv525721CNV Loss19592680
    nsv293526CNV Loss16902084


    Human Gene Mutation Database (HGMD): GRXCR1
    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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613283   
    OMIM disorders: 613285  
    UniProtKB/Swiss-Prot: GRCR1_HUMAN, A8MXD5
  • Deafness, autosomal recessive, 25 (DFNB25) [MIM:613285]: A form of non-syndromic sensorineural deafness
    characterized by moderate to severe or profound hearing loss which is progressive in some individuals but not in
    others. Speech development is impaired in some but not all affected individuals, and vestibular dysfunction is
    observed in some affected individuals. Sensorineural deafness results from damage to the neural receptors of the
    inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 2 diseases for GRXCR1:    About MalaCards
    deafness, autosomal recessive 25    nonsyndromic deafness

    1 disease from the University of Copenhagen DISEASES database for GRXCR1:
    Nonsyndromic deafness

    GRXCR1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): GRXCR1
    Human Genome Epidemiology (HuGE) Navigator: GRXCR1 (2 documents)

    Export disorders for GRXCR1 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 GRXCR1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with GRXCR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment. (PubMed id 20137778)1, 2, 3 Schraders M....Kremer H. (2010)
    2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    3. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (2012)
    4. Docking motif-guided mapping of the interactome of protein phosphatase-1. (PubMed id 19389623)1 Hendrickx A.... Bollen M. (2009)
    5. Creation of genome-wide protein expression libraries using random activation of gene expression. (PubMed id 11329013)1 Harrington J.J.... Ducar M. (2001)
    6. Toward a complete human genome sequence. (PubMed id 9847074)1 Wilson R. (1998)
    7. (PubMed id 20137774)2 

    (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: 389207 HGNC: 31673 AceView: LOC389207 Ensembl:ENSG00000215203 euGenes: HUgn389207
    ECgene: GRXCR1 H-InvDB: GRXCR1

    (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 GRXCR1 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 GRXCR1 gene:
    Search GeneIP for patents involving GRXCR1

    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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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