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

MAMSTR Gene

protein-coding   GIFtS: 45
GCID: GC19M049216

MEF2 activating motif and SAP domain containing transcriptional...

 Explore 1 disease affiliated with
MAMSTR via our new
 Human Malady Compendium 
Biological research products
for MAMSTR
    

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

Aliases
MEF2 Activating Motif And SAP Domain Containing Transcriptional
Regulator1 2
     Likely Ortholog Of MEF2-Activating SAP Transcriptional Regulator2
MASTR1 2 3     MEF2-Activating Motif And SAP Domain-Containing Transcriptional Regulator2
MEF2-Activating SAP Transcriptional Regulatory Protein2 3     MEF2-Activating SAP Transcriptional Regulator2
FLJ360701     

External Ids:    HGNC: 266891   Entrez Gene: 2843582   Ensembl: ENSG000001769097   OMIM: 6103495   UniProtKB: Q6ZN013   

Export aliases for MAMSTR gene to outside databases

Previous GC identifers: GC19M053909 GC19M045595


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

UniProtKB/Swiss-Prot: MASTR_HUMAN, Q6ZN01
Function: Transcriptional coactivator. Stimulates the transcriptional activity of MEF2C. Stimulates MYOD1 activity in
part via MEF2, resulting in an enhancement of skeletal muscle differentiation (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_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for MAMSTR
         Other transcription factors

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

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


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

Entrez Gene cytogenetic band: 19q13.33   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.33

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M049216:  view genomic region     (about GC identifiers)

Start:
49,216,255 bp from pter      End:
49,222,978 bp from pter
Size:
6,724 bases      Orientation:
minus 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: MASTR_HUMAN, Q6ZN01 (See protein sequence)
Recommended Name: MEF2-activating motif and SAP domain-containing transcriptional regulator  
Size: 415 amino acids; 44632 Da
Subunit: Interacts with MEF2C (By similarity)
Subcellular location: Nucleus (By similarity)
Secondary accessions: B7ZKX4 Q3KQU9 Q8N9Y3
Alternative splicing: 3 isoforms:  Q6ZN01-1   Q6ZN01-2   Q6ZN01-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MAMSTR: NX_Q6ZN01

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6ZN01

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001124387.1  NP_872380.1  

    ENSEMBL proteins: 
     ENSP00000324175   ENSP00000393801   ENSP00000366584   ENSP00000349192  

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    Uscn Proteins for MAMSTR

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--


    MAMSTR for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for MAMSTR


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

    MAMSTR for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR003034 SAP_dom

    Graphical View of Domain Structure for InterPro Entry Q6ZN01

    ProtoNet protein and cluster: Q6ZN01

    1 Blocks protein family: IPB003034 DNA-binding SAP

    UniProtKB/Swiss-Prot: MASTR_HUMAN, Q6ZN01
    Similarity: Contains 1 SAP domain


    (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: MASTR_HUMAN, Q6ZN01
    Function: Transcriptional coactivator. Stimulates the transcriptional activity of MEF2C. Stimulates MYOD1 activity in
    part via MEF2, resulting in an enhancement of skeletal muscle differentiation (By similarity)

    miRNA
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    6 QIAGEN miScript miRNA Assays for microRNAs that regulate MAMSTR:
    hsa-miR-424 hsa-miR-15a hsa-miR-195 hsa-miR-497 hsa-miR-16 hsa-miR-15b
    SwitchGear 3'UTR luciferase reporter plasmidMAMSTR 3' UTR sequence
    Inhib. RNA
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAMSTR 

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    Search LifeMap BioReagents cell lines for MAMSTR

    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAMSTR

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001076RNA polymerase II transcription factor binding transcription factor activity IEA--
    GO:0003676nucleic acid binding IEA--
    GO:0005515protein binding ----


    MAMSTR for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Mamstrtm1.2Eno for MAMSTR
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Mamstr):
     cellular  growth/size  mortality/aging  muscle 

    MAMSTR 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 MAMSTR

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

    1 Interacting protein for MAMSTR (Q6ZN013 ENSP000003241754) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYOCDQ8IZQ83, ENSP000003418354I2D: score=1 STRING: ENSP00000341835
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006357regulation of transcription from RNA polymerase II promoter ----
    GO:0006366transcription from RNA polymerase II promoter ----
    GO:0010831positive regulation of myotube differentiation IEA--
    GO:0045944positive regulation of transcription from RNA polymerase II promoter IEA--


    MAMSTR 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 MAMSTR
    Search CenterWatch for drugs/clinical trials and news about MAMSTR / MASTR 

    (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 MAMSTR gene (2 alternative transcripts): 
    NM_001130915.1  NM_182574.2  

    Unigene Cluster for MAMSTR:

    MEF2 activating motif and SAP domain containing transcriptional regulator
    Hs.191815  [show with all ESTs]
    Unigene Representative Sequence: AK093389
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000318083(uc002pkg.2) ENST00000419611 ENST00000377367 ENST00000356751(uc002pkf.2)


    miRNA
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    Browse OriGene MicroRNA Expression Plasmids
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    6 QIAGEN miScript miRNA Assays for microRNAs that regulate MAMSTR:
    hsa-miR-424 hsa-miR-15a hsa-miR-195 hsa-miR-497 hsa-miR-16 hsa-miR-15b
    SwitchGear 3'UTR luciferase reporter plasmidMAMSTR 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MAMSTR (see all 4)
    OriGene shRNA RFP: MAMSTR
    OriGene siRNA: MAMSTR
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    Clone
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): MAMSTR (NM_182574)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAMSTR 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MAMSTR
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    Additional cDNA sequence: 

    AK093389.1 AK131427.1 BC105056.1 BC105058.1 BC106047.1 BC143443.1 

    6 DOTS entries:

    DT.99939957  DT.302669  DT.95179369  DT.100836677  DT.97824546  DT.40211898 

    24/26 AceView cDNA sequences (see all 26):

    BX280379 BQ082086 AA323136 BM973739 BF306260 BM475027 BI761224 AX748093 
    BQ081916 BQ773031 AK093389 NM_182574 CA417466 AK131427 BX460086 AA679911 
    AA610125 BF792875 BG748885 BI830703 BX431575 BU536747 BF872007 BX431574 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for MAMSTR    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9
    SP1:                                                                                          
    SP2:              -     -           -     -                                                   
    SP3:                                -                                                         


    ECgene alternative splicing isoforms for MAMSTR

    (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

    MAMSTR 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

    MAMSTR expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)Cartilage, Neural Crest
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See MAMSTR Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MAMSTR

    SOURCE GeneReport for Unigene cluster: Hs.191815

    UniProtKB/Swiss-Prot: MASTR_HUMAN, Q6ZN01
    Tissue specificity: Expressed in skeletal muscle, brain, placenta and spleen

        SABiosciences Custom PCR Arrays for MAMSTR
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAMSTR

    (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 MAMSTR gene from 2/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mamstr1 , 5 MEF2 activating motif and SAP domain containing transcriptional more1, 5 78.92(n)1
    78.19(a)1
      7 (29.40 cM)5
    744901  NM_172418.21  NP_766006.21 
     456399775 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5737411 uncharacterized LOC573741 47.75(n)
    38.73(a)
      573741  XM_692938.5  XP_698030.5 


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

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

    (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

    10/119 NCBI SNPs in MAMSTR are shown (see all 119    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1894769801,2
    --49215851(+) TTTTTG/TTTTGT 2 -- ds50010--------
    rs1170627441,2
    C,F,--49215853(+) TTTTTT/GTGTGT 2 -- ds50011Minor allele frequency- G:0.05EA 120
    rs1819559161,2
    --49215865(+) TGTGTG/TTTTGG 2 -- ds50010--------
    rs1856611341,2
    --49215959(+) GCTGGA/GATCGC 2 -- ds50010--------
    rs1453698361,2
    --49216033(+) TCTCAC/GGCTCT 2 -- ds50010--------
    rs2042481,2
    C,F,A,--49216224(+) GGGTCG/CGGGGC 2 -- ds50016Minor allele frequency- C:0.46NA WA EA 364
    rs1896264871,2
    --49216313(+) CAACCA/GTACCA 2 -- ut310--------
    rs1488473621,2
    --49216323(+) ACGCCA/GGAGGG 2 -- ut310--------
    rs1815249991,2
    --49216330(+) AGGGGA/GATCAT 2 -- ut310--------
    rs1862209361,2
    --49216472(+) ACAAGA/GAGCTT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for MAMSTR (49216255 - 49222978 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for MAMSTR
         1 CNV: 32261

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

    (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

    MAMSTR for disorders           About GeneDecksing

    OMIM gene information: 610349    OMIM disorders: --

    1 disease for MAMSTR:    About MalaCards
    substance abuse


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

    1. Coactivation of MEF2 by the SAP domain proteins myocardin and MASTR. (PubMed id 16818234)1, 2, 3 Creemers E.E.... Olson E.N. (2006)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Genetic risk and a primary role for cell-mediated immu ne mechanisms in multiple sclerosis. (PubMed id 21833088)1  ....Compston A. (2011)
    4. Large-scale genome-wide association analysis of bipol ar disorder identifies a new susceptibility locus near ODZ4. (PubMed id 21926972)1 Sklar P....Purcell S.M. (2011)
    5. Four novel Loci (19q13, 6q24, 12q24, and 5q14) influe nce the microcirculation in vivo. (PubMed id 21060863)1 Ikram M.K....Wong T.Y. (2010)
    6. Biological, clinical and population relevance of 95 l oci for blood lipids. (PubMed id 20686565)1 Teslovich T.M....Kathiresan S. (2010)
    7. 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)
    8. 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)
    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: 284358 HGNC: 26689 AceView: FLJ36070 Ensembl:ENSG00000176909 euGenes: HUgn284358
    ECgene: MAMSTR H-InvDB: MAMSTR

    (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 MAMSTR 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 MAMSTR gene:
    Search GeneIP for patents involving MAMSTR

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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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