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

TBC1D24 Gene

protein-coding   GIFtS: 48
GCID: GC16P002526

TBC1 Domain Family, Member 24

  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)
About This Section

Aliases
TBC1 Domain Family, Member 241 2     EIEE162
TBC/LysM-Associated Domain Containing 61 2     TLDC62
FIME2 5     TBC1 Domain Family Member 242
KIAA11713 5     

External Ids:    HGNC: 292031   Entrez Gene: 574652   Ensembl: ENSG000001620657   OMIM: 6135775   UniProtKB: Q9ULP93   

Export aliases for TBC1D24 gene to outside databases

Previous GC identifer: GC16P002487


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

Entrez Gene summary for TBC1D24 Gene:
This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins
which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group
of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of
membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy.
Alternative splicing results in multiple transcript variants. (provided by RefSeq, Feb 2011)

GeneCards Summary for TBC1D24 Gene: 
TBC1D24 (TBC1 domain family, member 24) is a protein-coding gene. Diseases associated with TBC1D24 include familial infantile myoclonic epilepsy, and focal epilepsy. GO annotations related to this gene include protein binding and Rab GTPase activator activity. An important paralog of this gene is ENSG00000260272.

UniProtKB/Swiss-Prot: TBC24_HUMAN, Q9ULP9
Function: May act as a GTPase-activating protein for Rab family protein(s). Involved in neuronal projections
development, probably through a negative modulation of ARF6 function




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010393.16  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TBC1D24 gene promoter:
         Elk-1   Pax-5   AP-4   Nkx2-5   Tal-1beta   AREB6   CREB   Zic1   HSF2   ITF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for TBC1D24

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBC1D24


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

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

TBC1D24 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBC1D24 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P002526:  view genomic region     (about GC identifiers)

Start:
2,525,147 bp from pter      End:
2,555,735 bp from pter
Size:
30,589 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TBC24_HUMAN, Q9ULP9 (See protein sequence)
Recommended Name: TBC1 domain family member 24  
Size: 559 amino acids; 62919 Da
Subunit: Interacts with ARF6
Subcellular location: Cytoplasm. Note=Partially expressed at the plasma membrane
Sequence caution: Sequence=BAA86485.1; Type=Erroneous initiation;
Secondary accessions: A0JNW3 Q2KJ08
Alternative splicing: 2 isoforms:  Q9ULP9-1   Q9ULP9-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TBC1D24: NX_Q9ULP9

Explore proteomics data for TBC1D24 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9ULP9

  • TBC1D24 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TBC1D24 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001186036.1  NP_065756.1  

    ENSEMBL proteins: 
     ENSP00000454408   ENSP00000293970   ENSP00000457896   ENSP00000457266   ENSP00000455005  
     ENSP00000390106  

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

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

    TBC1D24 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR000195 Rab-GTPase-TBC_dom
     IPR006571 TLDc

    Graphical View of Domain Structure for InterPro Entry Q9ULP9

    ProtoNet protein and cluster: Q9ULP9

    UniProtKB/Swiss-Prot: TBC24_HUMAN, Q9ULP9
    Similarity: Contains 1 Rab-GAP TBC domain
    Similarity: Contains 1 TLD domain


    TBC1D24 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TBC24_HUMAN, Q9ULP9
    Function: May act as a GTPase-activating protein for Rab family protein(s). Involved in neuronal projections
    development, probably through a negative modulation of ARF6 function

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005097Rab GTPase activator activity IEA--
    GO:0005515protein binding IPI--
         
    TBC1D24 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TBC1D24:
     Cell cycle / mitosis defect 

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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TBC1D24

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

    2 Interacting proteins for TBC1D24 (Q9ULP93 ENSP000002939704) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TMCO1Q9UM003I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0031175neuron projection development IMP--
    GO:0032313regulation of Rab GTPase activity ----

    TBC1D24 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 TBC1D24 (TBC24)

    Search CenterWatch for drugs/clinical trials and news about TBC1D24 / TBC24

    (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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TBC1D24 gene (2 alternative transcripts): 
    NM_001199107.1  NM_020705.2  

    Unigene Cluster for TBC1D24:

    TBC1 domain family, member 24
    Hs.353087  [show with all ESTs]
    Unigene Representative Sequence: NM_001199107
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000567020(uc002cql.3 uc002cqk.3 uc010bsm.3) ENST00000293970
    ENST00000566853 ENST00000562105 ENST00000564879 ENST00000569874 ENST00000434757

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    Additional mRNA sequence: 

    AB032997.1 AB449911.1 AK074509.1 BC112389.1 BC127014.1 BC127015.1 BX648283.1 

    5 DOTS entries:

    DT.100883301  DT.75128753  DT.120680310  DT.92043110  DT.435886 

    24/585 AceView cDNA sequences (see all 585):

    AI784541 CR608280 BM842657 BQ010053 BF475400 CF455481 BQ949611 BQ053546 
    CB529900 BM794561 BU860168 BU538818 BQ683536 AI270767 CR601237 BU628517 
    CR616464 AI092753 BM846106 AI621269 CD367100 BC007389 CR622720 CR599309 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D24    About this scheme

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


    ECgene alternative splicing isoforms for TBC1D24

    (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

    TBC1D24 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TBC1D24 Expression
    About this image


    See TBC1D24 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TBC1D24

    SOURCE GeneReport for Unigene cluster: Hs.353087

    UniProtKB/Swiss-Prot: TBC24_HUMAN, Q9ULP9
    Tissue specificity: Highest expression in brain

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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 animals.

    Orthologs for TBC1D24 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tbc1d241 , 5 TBC1 domain family, member 241, 5 85.45(n)1
    92.49(a)1
      17 (12.30 cM)5
    2246171  NM_001163849.11  NP_001157321.11 
     241754315 
    chicken
    (Gallus gallus)
    Aves TBC1D241 TBC1 domain family, member 24 75.64(n)
    80.55(a)
      100859828  XM_003642169.1  XP_003642217.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    77(a)
    1 → many
    GL343621.1(283559-299117)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.185632 Transcribed sequences 75(n)    CF344049.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005360731 TBC1 domain family member 24-like 65.55(n)
    63.45(a)
      100536073  XM_003201361.1  XP_003201409.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sky1 skywalker 48.43(n)
    35.66(a)
      35359  NM_165349.3  NP_724301.2 
    worm
    (Caenorhabditis elegans)
    Secernentea tbc-71 Protein TBC-7 41.04(n)
    29.96(a)
      180784  NM_171677.2  NP_741778.1 


    ENSEMBL Gene Tree for TBC1D24 (if available)
    TreeFam Gene Tree for TBC1D24 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TBC1D24 gene
    ENSG000002602722  
    1 SIMAP similar gene for TBC1D24 using alignment to 5 protein entries:     TBC24_HUMAN (see all proteins):
    OXR1

    TBC1D24 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) 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

    10/695 SNPs in TBC1D24 are shown (see all 695)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0643664
    Familial infantile myoclonic epilepsy (FIME)4--see VAR_0643662 F L mis40--------
    VAR_0643654
    Familial infantile myoclonic epilepsy (FIME)4--see VAR_0643652 D H mis40--------
    VAR_0643674
    Familial infantile myoclonic epilepsy (FIME)4--see VAR_0643672 A V mis40--------
    rs2676071031,2
    Cpathogenic12481925(+) GCATCA/C/GACGAG 4 H D mis10--------
    rs1438828471,2
    C--2458291(+) CCACAA/GGCCAG 2 -- us2k10--------
    rs2009268181,2
    C--2458342(+) GCTGCG/ACGCCT 2 -- us2k11Minor allele frequency- A:0.00EU 1035
    rs2009792991,2
    --2458343(+) CTGCGC/TGCCTG 2 -- us2k10--------
    rs1479898681,2
    F--2458344(+) TGCGCG/ACCTGG 2 -- us2k11Minor allele frequency- A:0.00NA 4488
    rs1416165971,2
    C,F--2458363(+) AAAGCC/TGCTCC 2 -- us2k12Minor allele frequency- T:0.00NA EU 5467
    rs2004896351,2
    C--2458376(+) AGTGGC/TGCCCT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for TBC1D24 (2525147 - 2555735 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/16 variations for TBC1D24 (see all 16):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2675949CNV Deletion23128226
    esv2422427CNV Duplication17116639
    dgv2545n71CNV Loss21882294
    esv29545CNV Loss19812545
    nsv905152CNV Loss21882294
    nsv905139CNV Loss21882294
    nsv833121CNV Loss17160897
    dgv2570n71CNV Loss21882294
    nsv905153CNV Loss21882294
    nsv833122CNV Loss17160897


    Human Gene Mutation Database (HGMD): TBC1D24
    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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613577   
    OMIM disorders: 605021  
    UniProtKB/Swiss-Prot: TBC24_HUMAN, Q9ULP9
  • Familial infantile myoclonic epilepsy (FIME) [MIM:605021]: A subtype of idiopathic epilepsy starting in
    early infancy and manifesting as myoclonic seizures, febrile convulsions, and tonic-clonic seizures. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 4 diseases for TBC1D24:    About MalaCards
    familial infantile myoclonic epilepsy    focal epilepsy    intellectual disability    neuronitis

    1 disease from the University of Copenhagen DISEASES database for TBC1D24:
    Focal epilepsy

    TBC1D24 for disorders           About GeneDecksing


    Export disorders for TBC1D24 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 TBC1D24 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with TBC1D24)
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    1. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461)1, 2, 3 Hirosawa M.... Ohara O. (1999)
    2. A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. (PubMed id 20797691)1, 2 Corbett M.A....Gecz J. (2010)
    3. TBC1D24, an ARF6-interacting protein, is mutated in f amilial infantile myoclonic epilepsy. (PubMed id 20727515)1, 2 Falace A....Zara F. (2010)
    4. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    5. TBC proteins: GAPs for mammalian small GTPase Rab? (PubMed id 21250943)1 Fukuda M. (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. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PubMed id 19077034)1 Ishibashi K.... Fukuda M. (2009)
    8. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    9. 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)
    10. 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)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 57465 HGNC: 29203 AceView: ATP6V0CandCGI-14andKIAA1171 Ensembl:ENSG00000162065 euGenes: HUgn57465
    ECgene: TBC1D24 H-InvDB: TBC1D24

    (According to HUGE)
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    HUGE: KIAA1171

    (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 TBC1D24 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 TBC1D24 gene:
    Search GeneIP for patents involving TBC1D24

    GeneCards and IP:
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