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

CATSPER4 Gene

protein-coding   GIFtS: 44
GCID: GC01P026517

cation channel, sperm associated 4

  Search for CATSPER4
in our new
 Human Malady Compendium 
Biological research products
for CATSPER4
    

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

Aliases
Cation Channel, Sperm Associated 41 2
Cation Channel Sperm-Associated Protein 42
Ion Channel CatSper42
CatSper43

External Ids:    HGNC: 232201   Entrez Gene: 3788072   Ensembl: ENSG000001887827   OMIM: 6091215   UniProtKB: Q7RTX73   

Export aliases for CATSPER4 gene to outside databases

Previous GC identifers: GC00U913195 GC01U900722 GC01P026121 GC01P026201 GC01P026389 GC01P024771


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

UniProtKB/Swiss-Prot: CTSR4_HUMAN, Q7RTX7
Function: Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses
essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the
oocyte. Activated by extracellular progesterone and prostaglandins following the sequence: progesterone > PGF1-alpha =
PGE1 > PGA1 > PGE2 >> PGD2. The primary effect of progesterone activation is to shift voltage dependence towards more
physiological, negative membrane potentials; it is not mediated by metabotropic receptors and second messengers. Sperm
capacitation enhances the effect of progesterone by providing additional negative shift. Also activated by the
elevation of intracellular pH

Gene Wiki entry for CATSPER4 (CatSper4)


(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_000001.10  NC_018912.1  NT_004610.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CATSPER4 gene promoter:
         STAT5A   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   Nkx2-5   POU3F2   E47   Zic1   Hand1   Zic3   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCATSPER4 promoter sequence
   Search SABiosciences Chromatin IP Primers for CATSPER4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CATSPER4


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

Entrez Gene cytogenetic band: 1p35.3   Ensembl cytogenetic band:  1p36.11   HGNC cytogenetic band: 1p35.3

CATSPER4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CATSPER4 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P026517:  view genomic region     (about GC identifiers)

Start:
26,517,052 bp from pter      End:
26,529,459 bp from pter
Size:
12,408 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: CTSR4_HUMAN, Q7RTX7 (See protein sequence)
Recommended Name: Cation channel sperm-associated protein 4  
Size: 472 amino acids; 54092 Da
Subunit: Heterotetramer; possibly composed of CATSPER1, CATSPER2, CATSPER3 and CATSPER4 (Potential). Component of the
CatSper complex. Interacts with CATSPER1 (By similarity)
Subcellular location: Cell projection, cilium, flagellum membrane; Multi-pass membrane protein. Note=Specifically
located in the principal piece of sperm tail
Sequence caution: Sequence=AAI28139.1; Type=Frameshift; Positions=21; Sequence=CAH71538.1; Type=Erroneous initiation;
Secondary accessions: A1A4W6 Q5VY71
Alternative splicing: 2 isoforms:  Q7RTX7-1   Q7RTX7-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CATSPER4: NX_Q7RTX7

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q7RTX7

  • CATSPER4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_937770.1  
    ENSEMBL proteins: 
     ENSP00000341006   ENSP00000390423   ENSP00000429464  

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    Uscn Proteins for CATSPER4

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001669acrosomal vesicle IEA--
    GO:0005929cilium IEA--
    GO:0036128CatSper complex ISS--


    CATSPER4 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for CATSPER4


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

    CATSPER4 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR005821 Ion_trans_dom

    Graphical View of Domain Structure for InterPro Entry Q7RTX7

    ProtoNet protein and cluster: Q7RTX7

    UniProtKB/Swiss-Prot: CTSR4_HUMAN, Q7RTX7
    Similarity: Belongs to the cation channel sperm-associated (TC 1.A.1.19) family


    (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: CTSR4_HUMAN, Q7RTX7
    Function: Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses
    essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the
    oocyte. Activated by extracellular progesterone and prostaglandins following the sequence: progesterone > PGF1-alpha =
    PGE1 > PGA1 > PGE2 >> PGD2. The primary effect of progesterone activation is to shift voltage dependence towards more
    physiological, negative membrane potentials; it is not mediated by metabotropic receptors and second messengers. Sperm
    capacitation enhances the effect of progesterone by providing additional negative shift. Also activated by the
    elevation of intracellular pH

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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005227calcium activated cation channel activity IEA--
    GO:0005244voltage-gated ion channel activity IEA--
    GO:0005262calcium channel activity IEA--
    GO:0005515protein binding ----


    CATSPER4 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for CATSPER4: Catsper4tm1Wyan Catsper4tm1Clph
         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Catsper4):
     reproductive system 

    CATSPER4 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 CATSPER4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/36 Interacting proteins for CATSPER4 (ENSP000003410064) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AKAP6ENSP000002809794STRING: ENSP00000280979
    CACNA1BENSP000002775494STRING: ENSP00000277549
    CACNA1CENSP000002663764STRING: ENSP00000266376
    CACNA1DENSP000002881394STRING: ENSP00000288139
    CACNA1EENSP000003565454STRING: ENSP00000356545
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001539ciliary or flagellar motility IEA--
    GO:0006814sodium ion transport IEA--
    GO:0007275multicellular organismal development IEA--
    GO:0007283spermatogenesis IEA--
    GO:0030154cell differentiation IEA--


    CATSPER4 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 CATSPER4

    1 HMDB Compound for CATSPER4    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Search CenterWatch for drugs/clinical trials and news about CATSPER4 / CTSR4 

    (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 CATSPER4 gene: 
    NM_198137.1  

    Unigene Cluster for CATSPER4:

    Cation channel, sperm associated 4
    Hs.123532  [show with all ESTs]
    Unigene Representative Sequence: BC144663
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000338855(uc010oey.1) ENST00000456354(uc010oez.2) ENST00000518899(uc009vsf.3)


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    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CATSPER4
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CATSPER4

    Additional cDNA sequence: 

    BC128138.1 BC128139.1 BC144663.1 

    2 DOTS entries:

    DT.121335842  DT.205674 

    4 AceView cDNA sequences:

    BN000273 AA397745 AA421134 AA813135 

    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

    CATSPER4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    About this image
    See CATSPER4 Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.123532

    UniProtKB/Swiss-Prot: CTSR4_HUMAN, Q7RTX7
    Tissue specificity: Testis-specific

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CATSPER4

    (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 animals.

    Orthologs for CATSPER4 gene from 4/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves O42419_CHICK6
    Uncharacterized protein
    1(a)
    1 ↔ 1
    7(20980645-20989779)
    lizard
    (Anolis carolinensis)
    Reptilia CATSPER46
    --
    48(a)
    1 ↔ 1
    GL344429.1(8687-21707)
    zebrafish
    (Danio rerio)
    Actinopterygii scn1a6
    sodium channel, voltage-gated, type I, alpha
    3(a)
    1 ↔ 1
    9(51192878-51202495)
    fruit fly
    (Drosophila melanogaster)
    Insecta para6
    paralytic
    3(a)
    1 → many
    X(16352900-16421447)


    ENSEMBL Gene Tree for CATSPER4 (if available)
    TreeFam Gene Tree for CATSPER4 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CATSPER4 gene
    CATSPER22  CATSPER32  CATSPER12  
    1 SIMAP similar gene for CATSPER4 using alignment to 2 protein entries:     CTSR4_HUMAN (see all proteins):
    SCN3A

    CATSPER4 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

    10/316 NCBI SNPs in CATSPER4 are shown (see all 316    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs171636411,2
    C,--26516898(+) ATCAGC/GCTCTG 1 -- us2k13Minor allele frequency- G:0.01NA 142
    rs1448526671,2
    --26516905(+) TCTGAC/GTTCCA 1 -- us2k10--------
    rs1122875221,2
    --26516976(+) CAATGG/AGAGGA 1 -- us2k12Minor allele frequency- A:0.04CSA WA 120
    rs1856045201,2
    C,--26517111(+) AGACTA/GAGCAA 1 -- us2k10--------
    rs2014340411,2
    --26517151(+) CAGCAA/GTGGAC 2 Q syn10--------
    rs2009338441,2
    --26517200(+) AGGACC/TGTATG 2 R C mis10--------
    rs1378716531,2
    C,F,--26517211(+) GGGTTT/CGGAGG 2 /F syn12Minor allele frequency- C:0.00NA EU 5457
    rs1496121491,2
    C,F--26517216(+) TGGAGG/AGGCAG 2 /E /G mis11Minor allele frequency- A:0.00NA 4474
    rs1443614551,2
    C,--26517243(+) CCGCCC/GCTCTC 2 P R mis11Minor allele frequency- G:0.00NA 4480
    rs412843331,2
    C,F,--26517267(+) CATTCA/GCGAGT 2 H R mis110Minor allele frequency- G:0.19NA CSA WA EU 5788

    HapMap Linkage Disequilibrium report for CATSPER4 (26517052 - 26529459 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CATSPER4: --
    Human Gene Mutation Database (HGMD): CATSPER4

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for CATSPER4

    (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

    CATSPER4 for disorders           About MalaCards

    CATSPER4 for disorders           About GeneDecksing

    OMIM gene information: 609121    OMIM disorders: --

    Human Genome Epidemiology (HuGE) Navigator: CATSPER4 (3 documents)

    Export disorders for CATSPER4 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 CATSPER4 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with CATSPER4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of human and mouse CatSper3 and CatSper4 genes: characterisation of a common interaction domain and evidence for expression in testis. (PubMed id 12932298)1, 2, 3, 9 Lobley A.... Michalovich D. (2003)
    2. All four CatSper ion channel proteins are required for male fertility and sperm cell hyperactivated motility. (PubMed id 17227845)1, 3 Qi H....Clapham D.E. (2007)
    3. International Union of Pharmacology. L. Nomenclature and structure-function relationships of CatSper and two-pore channels. (PubMed id 16382101)1, 3 Clapham D.E. and Garbers D.L. (2005)
    4. Progesterone activates the principal Ca2+ channel of human sperm. (PubMed id 21412339)2 Lishko P.V.... Kirichok Y. (2011)
    5. The CatSper channel mediates progesterone-induced Ca2+ influx in human sperm. (PubMed id 21412338)2 Strunker T.... Kaupp U.B. (2011)
    6. The role of height-associated loci identified in geno me wide association studies in the determination of pediatric stature. (PubMed id 20546612)1 Zhao J....Grant S.F. (2010)
    7. Meta-analysis of genome-wide scans for human adult st ature identifies novel Loci and associations with measures of skeletal frame si ze. (PubMed id 19343178)1 Soranzo N....Deloukas P. (2009)
    8. Expression of CatSper family transcripts in the mouse testis during post-natal development and human ejaculated spermatozoa: relationship to sperm motility. (PubMed id 17347248)2 Li H.-G.... Xiong C.-L. (2007)
    9. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
    10. 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)

    (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: 378807 HGNC: 23220 AceView: CATSPER4 Ensembl:ENSG00000188782 euGenes: HUgn378807
    ECgene: CATSPER4 H-InvDB: CATSPER4

    (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 CATSPER4 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 CATSPER4 gene:
    Search GeneIP for patents involving CATSPER4

    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),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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    von Willebrand factor
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