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

ACBD6 Gene

protein-coding   GIFtS: 48
GCID: GC01M180244

acyl-CoA binding domain containing 6

(Previous name: acyl-Coenzyme A binding domain containing 6 )
 Explore 1 disease affiliated with
ACBD6 via our new
 Human Malady Compendium 
Biological research products
for ACBD6
    

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

Aliases
Acyl-CoA Binding Domain Containing 61 2
Acyl-Coenzyme A Binding Domain Containing 61 2
MGC24041
Acyl-CoA-Binding Domain-Containing Protein 62

External Ids:    HGNC: 233391   Entrez Gene: 843202   Ensembl: ENSG000001358477   UniProtKB: Q9BR613   

Export aliases for ACBD6 gene to outside databases

Previous GC identifers: GC01M177496 GC01M176989 GC01M178523 GC01M151488


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

UniProtKB/Swiss-Prot: ACBD6_HUMAN, Q9BR61
Function: Binds long-chain acyl-coenzyme A molecules with a strong preference for unsaturated C18:1-CoA, lower affinity
for unsaturated C20:4-CoA, and very weak affinity for saturated C16:0-CoA. Does not bind fatty acids




(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_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ACBD6 gene promoter:
         Nkx3-1   STAT1   STAT1beta   Nkx2-5   STAT1alpha   RORalpha1   MEF-2A   SRY   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACBD6 promoter sequence
   Search SABiosciences Chromatin IP Primers for ACBD6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACBD6


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

Entrez Gene cytogenetic band: 1q25.1   Ensembl cytogenetic band:  1q25.3   HGNC cytogenetic band: 1q25.1

ACBD6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACBD6 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M180244:  view genomic region     (about GC identifiers)

Start:
180,244,515 bp from pter      End:
180,472,089 bp from pter
Size:
227,575 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: ACBD6_HUMAN, Q9BR61 (See protein sequence)
Recommended Name: Acyl-CoA-binding domain-containing protein 6  
Size: 282 amino acids; 31151 Da
Subunit: Monomer
Subcellular location: Cytoplasm
1 PDB 3D structure from and Proteopedia for ACBD6:
2COP (3D)    

Explore the universe of human proteins at neXtProt for ACBD6: NX_Q9BR61

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BR61

  • ACBD6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_115736.1  
    ENSEMBL proteins: 
     ENSP00000356567  

    Human Recombinant Protein Products: 
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    Uscn Proteins for ACBD6

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--


    ACBD6 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

    ACBD6 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR020683 Ankyrin_rpt-contain_dom
     IPR000582 Acyl-CoA-binding_protein
     IPR002110 Ankyrin_rpt
     IPR014352 FERM/acyl-CoA-bd_prot_3-hlx

    Graphical View of Domain Structure for InterPro Entry Q9BR61

    ProtoNet protein and cluster: Q9BR61

    2 Blocks protein families:
    IPB000582 Acyl-coA-binding protein
    IPB002110 Ankyrin repeat signature


    UniProtKB/Swiss-Prot: ACBD6_HUMAN, Q9BR61
    Similarity: Contains 1 ACB (acyl-CoA-binding) domain
    Similarity: Contains 2 ANK repeats


    (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: ACBD6_HUMAN, Q9BR61
    Function: Binds long-chain acyl-coenzyme A molecules with a strong preference for unsaturated C18:1-CoA, lower affinity
    for unsaturated C20:4-CoA, and very weak affinity for saturated C16:0-CoA. Does not bind fatty acids

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    hsa-miR-29a*
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000062fatty-acyl-CoA binding IEA--
    GO:0008289lipid binding IEA--


    ACBD6 for ontologies           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 ACBD6

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for ACBD6 (Q9BR613 ENSP000003565674) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IKBKGQ9Y6K93, ENSP000003586224I2D: score=1 STRING: ENSP00000358622
    UBCENSP000003448184STRING: ENSP00000344818
    SUMO2ENSP000004059654STRING: ENSP00000405965
    About this table

    (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 ACBD6

    10/32 HMDB Compounds for ACBD6 (see all 32)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (2E)-Decenoyl-CoA(E)-S-2-decenoate Coenzyme A (see all 15)10018-95-8--
    (2E)-Dodecenoyl-CoA2-trans-Dodecenoyl-Coenzyme A (see all 4)1066-12-2--
    (2E)-Hexadecenoyl-CoAtrans-2-Hexadecenoyl-CoA (see all 4)4460-95-1--
    (2E)-Octenoyl-CoA(E)-S-2-octenoate Coenzyme A (see all 16)10018-94-7--
    (2E)-Tetradecenoyl-CoA(2E)-Tetradecenoyl-Coenzyme A (see all 8)38795-33-4--
    2-Methylbutyryl-CoA2-methylbutanoyl-CoA (see all 11)6712-02-3--
    2-Methylhexanoyl-CoA2-Methylhexanoyl-CoEnzyme A (see all 5)----
    3Z-dodecenoyl-CoAS-[2-[3-[[(2R)-4-[[[(2R,3R,5R)-5-(6-aminopurin-9-yl)-4-hydroxy-3-phosphonooxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-hydroxyphosphoryl]oxy-2-hydroxy-3,3-dimethylbutanoyl]amino]propanoylamino]ethyl] (Z)-dodec-3-enethioate (see all 4)2152-91-2--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Acrylyl-CoAAcryloyl coenzyme A (see all 14)5776-58-9--
    Search CenterWatch for drugs/clinical trials and news about ACBD6 

    (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 ACBD6 gene: 
    NM_032360.3  

    Unigene Cluster for ACBD6:

    Acyl-CoA binding domain containing 6
    Hs.200051  [show with all ESTs]
    Unigene Representative Sequence: NM_032360
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000496993 ENST00000475338 ENST00000367595(uc001gog.3)

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    Additional cDNA sequence: 

    AK314112.1 AY606133.1 BC006505.2 

    8 DOTS entries:

    DT.313634  DT.91746778  DT.100785371  DT.121354303  DT.95113037  DT.95148204  DT.100785368  DT.95134157 

    24/159 AceView cDNA sequences (see all 159):

    BM701521 CR626583 CR596874 BM452460 CR596110 BM988241 BM908572 BE855801 
    BU170874 AW614879 BE206893 BM927379 CR602338 CB144881 NM_032360 AA742684 
    BM789330 AW205806 BM918067 AA380548 BM980312 CB053945 BQ923198 BU859461 

    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

    ACBD6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAGAAACCAT

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

    About this image

    ACBD6 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeInner Nuclear LayerMature Horizontal CellsHorizontal, Retina
    EyeInner Nuclear LayerMature Rod Bipolar CellsBipolar, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ACBD6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACBD6

    SOURCE GeneReport for Unigene cluster: Hs.200051

    UniProtKB/Swiss-Prot: ACBD6_HUMAN, Q9BR61
    Tissue specificity: Detected in placenta and spleen (at protein level). Detected in placenta, umbilical cord blood,
    CD34-positive hematopoietic progenitor cells and bone marrow

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    In Situ
    Assay Products:
     

     
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    (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 ACBD6 gene from 9/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acbd61 , 5 acyl-Coenzyme A binding domain containing 61, 5 86.52(n)1
    85.82(a)1
      1 (66.92 cM)5
    724821  NM_028250.31  NP_082526.21 
     1555581205 
    chicken
    (Gallus gallus)
    Aves ACBD61 acyl-CoA binding domain containing 6 73.53(n)
    76.4(a)
      424416  XM_422259.3  XP_422259.3 
    lizard
    (Anolis carolinensis)
    Reptilia ACBD66
    --
    72(a)
    1 ↔ 1
    4(70103959-70242967)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.64442 Xenopus laevis transcribed sequence with weak similarity more 79.7(n)    CD327538.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc18d092 Danio rerio cDNA clone IMAGE7001232 75.98(n)    BC064897.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG337131 CG33713 43.71(n)
    34.65(a)
      3771728  NM_001031914.1  NP_001027085.1 
    worm
    (Caenorhabditis elegans)
    Secernentea acbp-51 Protein ACBP-5 43.83(n)
    31.94(a)
      176800  NM_067416.3  NP_499817.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ACBP11 acyl-CoA binding protein 1 47.7(n)
    40.65(a)
      835428  NM_124726.3  NP_200159.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g06819001 hypothetical protein 49.19(n)
    41.53(a)
      4337434  NM_001060827.1  NP_001054292.1 


    ENSEMBL Gene Tree for ACBD6 (if available)
    TreeFam Gene Tree for ACBD6 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACBD6 gene
    OSTF12  

    ACBD6 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

    10/3590 NCBI SNPs in ACBD6 are shown (see all 3590    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs727129971,2
    C,F,--180256889(+) GAAAAC/GAGAGT 1 -- int11Minor allele frequency- G:0.04NA 120
    rs1504867541,2
    --180257011(+) ACATCC/GCTCTT 1 -- int10--------
    rs1140898261,2
    --180257042(+) TGTCTG/ACCAAA 1 -- int11Minor allele frequency- A:0.01WA 118
    rs1122639531,2
    --180257052(+) AAGAAT/CAGACA 1 -- int12Minor allele frequency- C:0.10CSA WA 119
    rs1867815261,2
    --180257056(+) ATAGAC/TATCTT 1 -- int10--------
    rs1916487581,2
    --180257121(+) ACCATG/TTTGGG 1 -- int10--------
    rs1382503131,2
    --180257346(+) GAATGA/GATTGC 1 -- int10--------
    rs1496156741,2
    --180257412(+) AAGACA/GGGTGG 1 -- ut310--------
    rs1421965601,2
    F--180257537(+) AAAGAA/GACTGT 2 V syn11Minor allele frequency- G:0.00NA 4550
    rs727129981,2
    C,F,--180257603(+) TCAGCA/CCCAGA 2 G syn12Minor allele frequency- C:0.00NA EU 5841

    HapMap Linkage Disequilibrium report for ACBD6 (180244515 - 180472089 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 9 variations for ACBD6
         4 CNVs: 39021 4264 97572 97573
         5 Indels: 41959 39670 44474 24009 60910
    Human Gene Mutation Database (HGMD): ACBD6

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ACBD6 for disorders           About GeneDecksing

    1 disease for ACBD6:    About MalaCards
    malaria

    Human Genome Epidemiology (HuGE) Navigator: ACBD6 (1 document)

    Export disorders for ACBD6 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 ACBD6 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with ACBD6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of an acyl-coenzyme A binding protein predominantly expressed in human primitive progenitor cells. (PubMed id 18268358)1, 2 Soupene E.... Kuypers F.A. (2008)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    3. 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)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    7. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    8. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    9. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84320 HGNC: 23339 AceView: ACBD6 Ensembl:ENSG00000135847 euGenes: HUgn84320
    ECgene: ACBD6 H-InvDB: ACBD6

    (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 ACBD6 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 ACBD6 gene:
    Search GeneIP for patents involving ACBD6

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



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