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KBTBD13 Gene

protein-coding   GIFtS: 38
GCID: GC15P065369

Kelch Repeat And BTB (POZ) Domain Containing 13

  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)
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Aliases
Kelch Repeat And BTB (POZ) Domain Containing 131 2
Nemaline Myopathy Type 61 2
NEM62 5
HCG16457272
Kelch Repeat And BTB Domain-Containing Protein 132

External Ids:    HGNC: 372271   Entrez Gene: 3905942   Ensembl: ENSG000002344387   OMIM: 6137275   UniProtKB: C9JR723   

Export aliases for KBTBD13 gene to outside databases

Previous GC identifer: GC15P042193


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KBTBD13 Gene:
The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB
domain functions as a protein-protein interaction module, which includes an ability to self-associate or to
interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven
repeats, and has been found in proteins with diverse functions. Known functions of these family members include
transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and
cytoskeleton regulation. The exact function of this family member has yet to be determined. (provided by RefSeq,
Jun 2010)

GeneCards Summary for KBTBD13 Gene:
KBTBD13 (kelch repeat and BTB (POZ) domain containing 13) is a protein-coding gene. Diseases associated with KBTBD13 include nemaline myopathy 6, and nemaline myopathy 6, autosomal dominant. An important paralog of this gene is KLHL42.

UniProtKB/Swiss-Prot: KBTBD_HUMAN, C9JR72
Function: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000015.10  NC_018926.2  NT_010194.18  
Regulatory elements:
   Search for regulatory transcription factor binding sites for KBTBD13
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KBTBD13

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KBTBD13


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

Entrez Gene cytogenetic band: 15q22.31   Ensembl cytogenetic band:  15q22.31   HGNC cytogenetic band: 15q22.31

KBTBD13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KBTBD13 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P065369:  view genomic region     (about GC identifiers)

Start:
65,369,154 bp from pter      End:
65,372,276 bp from pter
Size:
3,123 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: KBTBD_HUMAN, C9JR72 (See protein sequence)
Recommended Name: Kelch repeat and BTB domain-containing protein 13  
Size: 458 amino acids; 49485 Da
Subunit: Component of the BCR(KBTBD13) E3 ubiquitin ligase complex, at least composed of CUL3 and KBTBD13 and
RBX1. Interacts with CUL3

Explore the universe of human proteins at neXtProt for KBTBD13: NX_C9JR72

Explore proteomics data for KBTBD13 at MOPED

Post-translational modifications: 

  • Autoubiquitinated1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KBTBD13 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001094832.1  
    ENSEMBL proteins: 
     ENSP00000388723  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    BTBD: BTB/POZ domain containing

    5 InterPro protein domains:
     IPR000210 BTB/POZ-like
     IPR006652 Kelch_1
     IPR011333 BTB/POZ_fold
     IPR013069 BTB_POZ
     IPR015915 Kelch-typ_b-propeller

    Graphical View of Domain Structure for InterPro Entry C9JR72

    ProtoNet protein and cluster: C9JR72

    UniProtKB/Swiss-Prot: KBTBD_HUMAN, C9JR72
    Domain: The BCB domain mediates the interaction with CUL3
    Similarity: Contains 1 BTB (POZ) domain
    Similarity: Contains 5 Kelch repeats


    KBTBD13 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KBTBD_HUMAN, C9JR72
    Function: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    KBTBD13 for ontologies           About GeneDecksing


    Animal Models:
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KBTBD_HUMAN, C9JR72: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum3
    cytosol1
    extracellular1
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    KBTBD13 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    UniProtKB/Swiss-Prot: KBTBD_HUMAN, C9JR72
    Pathway: Protein modification; protein ubiquitination

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KBTBD13
    Interactions:

        Search GeneGlobe Interaction Network for KBTBD13

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for KBTBD13 (ENSP000003887234) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    CUL3ENSP000002644144STRING: ENSP00000264414
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016567protein ubiquitination IEA--

    KBTBD13 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KBTBD13 (KBTBD)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for KBTBD13 gene: 
    NM_001101362.2  

    Unigene Cluster for KBTBD13:

    Kelch repeat and BTB (POZ) domain containing 13
    Hs.586890  [show with all ESTs]
    Unigene Representative Sequence: NM_001101362
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000432196(uc010uis.2)
    miRNA
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    hsa-miR-1226 hsa-miR-1266 hsa-miR-212 hsa-miR-132 hsa-miR-758 hsa-miR-3616-3p hsa-miR-4267
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    1 DOTS entry:

    DT.65286614 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KBTBD13 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCACGCTGC
    KBTBD13 Expression
    About this image

    KBTBD13 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KBTBD13 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.586890

    UniProtKB/Swiss-Prot: KBTBD_HUMAN, C9JR72
    Tissue specificity: Expressed in skeletal muscle

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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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for KBTBD13 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kbtbd131 , 5 kelch repeat and BTB (POZ) domain containing 131, 5 83.11(n)1
    86.24(a)1
      9 (35.28 cM)5
    744921  NM_028974.11  NP_083250.11 
     653886845 
    chicken
    (Gallus gallus)
    Aves KBTBD131 kelch repeat and BTB (POZ) domain containing 13 69.7(n)
    64.09(a)
      427511  XM_004943887.1  XP_004943944.1 
    lizard
    (Anolis carolinensis)
    Reptilia KBTBD136
    kelch repeat and BTB (POZ) domain containing 13
    55(a)
    1 ↔ 1
    GL343392.1(278248-279730)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004893131 kelch repeat and BTB domain-containing protein 13-like 57.11(n)
    55.5(a)
      100489313  XM_004912686.1  XP_004912743.1 
    zebrafish
    (Danio rerio)
    Actinopterygii KBTBD13 (3 of 3)6
    KBTBD13 (2 of 3)6
    (see all 3)
    kelch repeat and BTB (POZ) domain containing 13
    (see all 3)
    53(a)
    49(a)
    (see all 3)
    1 ↔ many
    1 ↔ many
    (see all 3)
    7(14614957-14616291) ENSDARG00000076449
    12(31858602-31860086) ENSDARG00000061045


    ENSEMBL Gene Tree for KBTBD13 (if available)
    TreeFam Gene Tree for KBTBD13 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KBTBD13 gene
    KLHL422  KLHL132  KLHL222  KLHL262  KLHL342  KLHL312  KBTBD112  KLHL322  
    KLHL92  KLHL142  KLHL152  KLHL362  KLHDC7B2  KLHL332  KLHDC7A2  

    KBTBD13 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KBTBD13 (see all 145)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0648904
    Nemaline myopathy 6 (NEM6)4--see VAR_0648902 K N mis40--------
    VAR_0648894
    Nemaline myopathy 6 (NEM6)4--see VAR_0648892 R S mis40--------
    VAR_0648914
    Nemaline myopathy 6 (NEM6)4--see VAR_0648912 R C mis40--------
    rs1472348421,2
    --45428070(+) GTGCAC/TGGTAT 1 -- us2k10--------
    rs1915561551,2
    --45428250(+) TCCCTC/TAGCTT 1 -- us2k10--------
    rs1848313161,2
    --45428263(+) AGGGAC/GGTGTG 1 -- us2k10--------
    rs1877978041,2
    --45428308(+) GTGGCA/GCTTGC 1 -- us2k10--------
    rs1925178931,2
    C--45428362(+) GCACTC/TGGAGC 1 -- us2k10--------
    rs29466401,2
    C--45428486(+) TTCTCA/GCCGGG 1 -- us2k11Minor allele frequency- G:0.00NA 2
    rs129133081,2
    C--45428491(+) accggA/Gcctta 1 -- us2k11Minor allele frequency- G:0.00NA 2

    HapMap Linkage Disequilibrium report for KBTBD13 (65369154 - 65372276 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for KBTBD13:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv904308CNV Loss21882294
    nsv827363CNV Gain20364138

    Human Gene Mutation Database (HGMD): KBTBD13
    Locus Specific Mutation Databases (LSDB): KBTBD13

    Site Specific Mutation Identification with 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.)
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    OMIM gene information: 613727   
    OMIM disorders: 609273  
    UniProtKB/Swiss-Prot: KBTBD_HUMAN, C9JR72
  • Nemaline myopathy 6 (NEM6) [MIM:609273]: A form of nemaline myopathy characterized by childhood onset of
    slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles.
    Patients are unable to run or correct themselves from falling over. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 8 diseases for KBTBD13:    About MalaCards
    nemaline myopathy 6    nemaline myopathy 6, autosomal dominant    kbtbd13-related nemaline myopathy    childhood-onset nemaline myopathy
    nemaline myopathy    myopathy    multiple myeloma    myeloma

    1 disease from the University of Copenhagen DISEASES database for KBTBD13:
    Nemaline myopathy

    KBTBD13 for disorders           About GeneDecksing


    Export disorders for KBTBD13 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)
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    PubMed articles for KBTBD13 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with KBTBD13)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase. (PubMed id 22542517)1, 2, 3 Sambuughin N.... Maynard E. (Biochem. Biophys. Res. Commun. 2012)
    2. Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. (PubMed id 21109227)1, 2, 3 Sambuughin N....Goldfarb L.G. (Am. J. Hum. Genet. 2010)
    3. Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)2 Zody M.C....Nusbaum C. (Nature 2006)
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    5. Sequence and structural analysis of BTB domain proteins. (PubMed id 16207353)1 Stogios P.J....PrivAc G.G. (Genome Biol. 2005)
    6. A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions. (PubMed id 12805120)1 Gommans I.M....Kremer H. (Brain 2003)
    7. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (Science 2001)
    8. Nemaline Myopathy (PubMed id 20301465)1 Pagon R.A....Stephens K. (1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 390594 HGNC: 37227 Ensembl:ENSG00000234438 euGenes: HUgn390594 ECgene: KBTBD13
    H-InvDB: KBTBD13

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KBTBD13 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KBTBD13 gene:
    Search GeneIP for patents involving KBTBD13

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