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

ASZ1 Gene

protein-coding   GIFtS: 45
GCID: GC07M117003

ankyrin repeat, SAM and basic leucine zipper domain containing...

(Previous name: ankyrin-like 1 )
(Previous symbols: C7orf7, ANKL1)
 Explore 5 diseases affiliated with
ASZ1 via our new
 Human Malady Compendium 
Biological research products
for ASZ1
    

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

Aliases
Ankyrin Repeat, SAM And Basic Leucine Zipper Domain Containing 11 2     Orf31 2
ALP11 2 3 5     Ankyrin-Like 11 2
ANKL11 2 3 5     Ankyrin-Like Protein 12 3
GASZ1 2 3 5     Germ Cell-Specific Ankyrin, SAM And Basic Leucine Zipper Domain-Containing
Protein2 3
C7orf71 2 3     4933400N19Rik2
CT1.191 2     Ankyrin Repeat, SAM And Basic Leucine Zipper Domain-Containing Protein 12

External Ids:    HGNC: 13501   Entrez Gene: 1369912   Ensembl: ENSG000001544387   OMIM: 6057975   UniProtKB: Q8WWH43   

Export aliases for ASZ1 gene to outside databases

Previous GC identifers: GC07M116597 GC07M116790 GC07M111368


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

UniProtKB/Swiss-Prot: ASZ1_HUMAN, Q8WWH4
Function: Plays a central role during spermatogenesis by repressing transposable elements and prevent their
mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the
repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and
govern the methylation and subsequent repression of transposons. Its association with pi-bodies suggests a
participation in the primary piRNAs metabolic process. Required prior to the pachytene stage to facilitate the
production of multiple types of piRNAs, including those associated with repeats involved in regulation of
retrotransposons. May act by mediating protein-protein interactions during germ cell maturation (By similarity)

Gene Wiki entry for ASZ1


(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_000007.13  NC_018918.1  NT_007933.15  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ASZ1 gene promoter:
         SRF   Pbx1a   SRF (504 AA)   ATF-2   Lmo2   Cdc5   E47   Evi-1   FOXL1   Hand1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidASZ1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ASZ1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ASZ1


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

Entrez Gene cytogenetic band: 7q31.2   Ensembl cytogenetic band:  7q31.2   HGNC cytogenetic band: 7q31.2

ASZ1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ASZ1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M117003:  view genomic region     (about GC identifiers)

Start:
117,003,276 bp from pter      End:
117,068,177 bp from pter
Size:
64,902 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 116,398,714-116,463,018     

(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: ASZ1_HUMAN, Q8WWH4 (See protein sequence)
Recommended Name: Ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1  
Size: 475 amino acids; 53458 Da
Subunit: Interacts with DDX4, PIWIL1, RANBP9 and TDRD1 (By similarity)
Subcellular location: Cytoplasm (By similarity). Note=Component of the meiotic nuage, also named P granule, a
germ-cell-specific organelle required to repress transposon during meiosis. Specifically localizes to pi-bodies, a
subset of the nuage which contains primary piRNAs (By similarity)
Secondary accessions: A0AV27 A4D0V0

Explore the universe of human proteins at neXtProt for ASZ1: NX_Q8WWH4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8WWH4

  • ASZ1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_570124.1  
    ENSEMBL proteins: 
     ENSP00000284629   ENSP00000389791   ENSP00000402919  

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    Uscn Proteins for ASZ1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ISS--
    GO:0071546pi-body ISS--


    ASZ1 for ontologies           About GeneDecksing



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

    ASZ1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR013761 SAM/pointed
     IPR011510 SAM_2
     IPR020683 Ankyrin_rpt-contain_dom
     IPR002110 Ankyrin_rpt

    Graphical View of Domain Structure for InterPro Entry Q8WWH4

    ProtoNet protein and cluster: Q8WWH4

    2 Blocks protein families:
    IPB001660 Sterile alpha motif SAM
    IPB011510 Sterile alpha motif homology 2


    UniProtKB/Swiss-Prot: ASZ1_HUMAN, Q8WWH4
    Similarity: Contains 6 ANK repeats
    Similarity: Contains 1 SAM (sterile alpha motif) 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: ASZ1_HUMAN, Q8WWH4
    Function: Plays a central role during spermatogenesis by repressing transposable elements and prevent their
    mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the
    repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and
    govern the methylation and subsequent repression of transposons. Its association with pi-bodies suggests a
    participation in the primary piRNAs metabolic process. Required prior to the pachytene stage to facilitate the
    production of multiple types of piRNAs, including those associated with repeats involved in regulation of
    retrotransposons. May act by mediating protein-protein interactions during germ cell maturation (By similarity)

    miRNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASZ1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity NAS12040005
    GO:0005515protein binding ----


    ASZ1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Asz1tm1Zuk for ASZ1
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Asz1):
     cellular  endocrine/exocrine gland  reproductive system 

    ASZ1 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:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ASZ1

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

    1 Interacting protein for ASZ1 (ENSP000002846294) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TSG101ENSP000002519684STRING: ENSP00000251968
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007140male meiosis ISS--
    GO:0007165signal transduction NAS12040005
    GO:0007275multicellular organismal development IEA--
    GO:0007283spermatogenesis ISS--
    GO:0030154cell differentiation IEA--


    ASZ1 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 ASZ1
    Search CenterWatch for drugs/clinical trials and news about ASZ1 

    (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,
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    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 ASZ1 gene: 
    NM_130768.2  

    Unigene Cluster for ASZ1:

    Ankyrin repeat, SAM and basic leucine zipper domain containing 1
    Hs.352412  [show with all ESTs]
    Unigene Representative Sequence: NR_023315
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000284629(uc003vjb.2 uc011kno.1 uc011knp.1) ENST00000463182
    ENST00000479454 ENST00000465832 ENST00000450714 ENST00000428663

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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ASZ1
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    Additional cDNA sequence: 

    AF461259.1 AK093445.1 BC028695.1 BC034963.1 BC068488.1 BC098399.1 BC126186.1 BC126188.1 
    BC144207.1 BC144212.1 DQ656019.2 DQ656020.2 NR_023315.1 

    4 DOTS entries:

    DT.91855150  DT.101976799  DT.95078170  DT.95119212 

    13 AceView cDNA sequences:

    AX748131 AF461259 NM_130768 BC068488 AK093445 BG720639 BC028695 BI560050 
    BC034963 BG771896 BI461419 BG771697 BI561909 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ASZ1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13
    SP1:                                                                                -               
    SP2:                                                                                                
    SP3:                    -                                                                           
    SP4:                                -                                                               


    ECgene alternative splicing isoforms for ASZ1

    (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

    ASZ1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGGGAAGATG

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

    About this image
    See ASZ1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ASZ1

    SOURCE GeneReport for Unigene cluster: Hs.352412

    UniProtKB/Swiss-Prot: ASZ1_HUMAN, Q8WWH4
    Tissue specificity: Expressed exclusively in the testis and ovary and at higher levels in the adult testis compared
    with the adult ovary

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASZ1

    (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 ASZ1 gene from 5/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Asz11 , 5 ankyrin repeat, SAM and basic leucine zipper domain more1, 5 85.75(n)1
    85.26(a)1
      6 (8.09 cM)5
    740681  NM_023729.31  NP_076218.31 
     180509645 
    chicken
    (Gallus gallus)
    Aves ASZ11 ankyrin repeat, SAM and basic leucine zipper domain more 64.95(n)
    53.53(a)
      417768  NM_001135165.1  NP_001128637.1 
    lizard
    (Anolis carolinensis)
    Reptilia ASZ16
    --
    53(a)
    1 ↔ 1
    5(61450974-61481932)
    zebrafish
    (Danio rerio)
    Actinopterygii asz11 ankyrin repeat, SAM and basic leucine zipper domain more 50.94(n)
    39.23(a)
      572911  NM_200230.1  NP_956524.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG21836
    --
    19(a)
    1 ↔ 1
    2R(4055453-4057594)


    ENSEMBL Gene Tree for ASZ1 (if available)
    TreeFam Gene Tree for ASZ1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ASZ1 gene

    ASZ1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ASZ1
    PGOHUM00000246149


    (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

    10/905 NCBI SNPs in ASZ1 are shown (see all 905    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1168946991,2
    C,F,--117002834(+) AGTATG/AGCACT 1 -- ds50011Minor allele frequency- A:0.02NA 120
    rs1910013661,2
    --117002915(+) AAATCG/TGAAAA 2 -- int1 ds50010--------
    rs1115446411,2
    --117002995(+) TTTTAT/CAATAT 2 -- int1 ds50012Minor allele frequency- C:0.02CSA WA 119
    rs69668361,2
    C,F,A,H,--117002998(+) TATAAC/TATTCC 2 -- int1 ds500116Minor allele frequency- T:0.46NA NS EA WA CSA 807
    rs1407171571,2
    --117003053(+) AAAAAA/GTTCCA 2 -- int1 ds50010--------
    rs9897271,2
    C,F,O,A,H,--117003539(+) TCCTAA/C/TGGAAT 4 -- ut31 nc-transcript-variantese322NS NA WA CSA EA 2313
    rs1446784731,2
    C,F,--117003695(+) AAACCG/TAATCC 3 L F mis12Minor allele frequency- T:0.00NA EU 5845
    rs2012723241,2
    --117003701(+) AATCCA/GCATAT 3 C nc-transcript-variantsyn10--------
    rs560887301,2
    C--117004168(+) TTAACG/ATCTTA 2 -- int11Minor allele frequency- A:0.50WA 2
    rs1823562171,2
    --117004407(+) CCTACA/CTACTG 2 -- int10--------

    HapMap Linkage Disequilibrium report for ASZ1 (117003276 - 117068177 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ASZ1: --

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for ASZ1

    (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

    ASZ1 for disorders           About GeneDecksing

    OMIM gene information: 605797    OMIM disorders: --

    5 diseases for ASZ1:    About MalaCards
    severe acute respiratory syndrome    hepatitis e    gastroenteritis    gigantism
    hepatitis


    Export disorders for ASZ1 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 ASZ1 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with ASZ1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of Gasz, an evolutionarily conserved gene expressed exclusively in germ cells and encoding a protein with four ankyrin repeats, a sterile-alpha motif, and a basic leucine zipper. (PubMed id 12040005)1, 2, 3 Yan W....Matzuk M.M. (2002)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    5. Mutational and functional analyses reveal that ST7 is a highly conserved tumor-suppressor gene on human chromosome 7q31. (PubMed id 11279520)1, 3 Zenklusen J.C.... Green E.D. (2001)
    6. Large-scale association analysis identifies 13 new su sceptibility loci for coronary artery disease. (PubMed id 21378990)1 Schunkert H....Samani N.J. (2011)
    7. Tumour susceptibility gene 101 and the vacuolar prote in sorting pathway are required for the release of hepatitis E virions. (PubMed id 21880841)1 Nagashima S....Okamoto H. (2011)
    8. Transcription-dependent spatial arrangements of CFTR and adjacent genes in human cell nuclei. (PubMed id 15364959)1 Zink D....Schindelhauer D. (2004)
    9. 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)
    10. Identification and characterization of evolutionarily conserved pufferfish, zebrafish, and frog orthologs of GASZ. (PubMed id 14766731)9 Yan W....Matzuk M.M. (2004)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 136991 HGNC: 1350 AceView: ASZ1 Ensembl:ENSG00000154438 euGenes: HUgn136991
    ECgene: ASZ1 H-InvDB: ASZ1

    (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 ASZ1 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 ASZ1 gene:
    Search GeneIP for patents involving ASZ1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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