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

HYLS1 Gene

protein-coding   GIFtS: 52
GCID: GC11P125753

Hydrolethalus Syndrome 1

  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
Hydrolethalus Syndrome 11 2
HLS2 3
Hydrolethalus Syndrome Protein 12
FLJ329155

External Ids:    HGNC: 265581   Entrez Gene: 2198442   Ensembl: ENSG000001983317   OMIM: 6106935   UniProtKB: Q96M113   

Export aliases for HYLS1 gene to outside databases

Previous GC identifers: GC11P125259 GC11P121695


(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 HYLS1 Gene:
This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus
syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified. (provided by
RefSeq, Oct 2008)

GeneCards Summary for HYLS1 Gene: 
HYLS1 (hydrolethalus syndrome 1) is a protein-coding gene. Diseases associated with HYLS1 include hydrolethalus syndrome, and hydrolethalus syndrome 1.

Gene Wiki entry for HYLS1 Gene


(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_000011.9  NT_033899.8  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HYLS1 gene promoter:
         TBP   Pbx1a   NF-YA   CBF-C   CBF-A   CBF-B   CP1A   CP1C   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): HYLS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for HYLS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HYLS1


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

Entrez Gene cytogenetic band: 11q24.2   Ensembl cytogenetic band:  11q24.2   HGNC cytogenetic band: 11q24

HYLS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HYLS1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P125753:  view genomic region     (about GC identifiers)

Start:
125,753,509 bp from pter      End:
125,770,543 bp from pter
Size:
17,035 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: HYLS1_HUMAN, Q96M11 (See protein sequence)
Recommended Name: Hydrolethalus syndrome protein 1  
Size: 299 amino acids; 34359 Da
Subcellular location: Cytoplasm
Sequence caution: Sequence=AAH15047.1; Type=Erroneous initiation;
Secondary accessions: B3KXI8 Q96BX9

Explore the universe of human proteins at neXtProt for HYLS1: NX_Q96M11

Explore proteomics data for HYLS1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96M11

  • HYLS1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HYLS1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001128265.1  NP_659451.1  

    ENSEMBL proteins: 
     ENSP00000348815   ENSP00000414884   ENSP00000436833  

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    Cloud-Clone Corp. Proteins for HYLS1 

    Gene Ontology (GO): 5 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--
    GO:0005813centrosome IDA--
    GO:0005886plasma membrane IDA--

    HYLS1 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
    1 InterPro protein domain:
     IPR026227 HYLS1

    Graphical View of Domain Structure for InterPro Entry Q96M11

    ProtoNet protein and cluster: Q96M11

    UniProtKB/Swiss-Prot: HYLS1_HUMAN, Q96M11
    Similarity: Belongs to the HYLS1 family


    HYLS1 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

    Phenotypes:
         1 GenomeRNAi human phenotype for HYLS1:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for HYLS1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HYLS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HYLS1 
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HYLS1


    (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 HYLS1

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

    2 Interacting proteins for HYLS1 (Q96M112, 3 ENSP000003488154) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C14orf1Q9UKR52, 3MINT-65235 I2D: score=5 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (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 HYLS1

    Search CenterWatch for drugs/clinical trials and news about HYLS1

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 HYLS1 gene (2 alternative transcripts): 
    NM_001134793.1  NM_145014.2  

    Unigene Cluster for HYLS1:

    Hydrolethalus syndrome 1
    Hs.98133  [show with all ESTs]
    Unigene Representative Sequence: NM_001134793
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000356438(uc009zbv.3) ENST00000425380(uc001qcx.4) ENST00000526028

    miRNA
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    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate HYLS1
    SwitchGear 3'UTR luciferase reporter plasmidHYLS1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HYLS1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HYLS1
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    OriGene clones in human, mouse for HYLS1 (see all 14)
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    GenScript: all cDNA clones in your preferred vector (see all 2): HYLS1 (NM_001134793)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HYLS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HYLS1
    Sirion Biotech Customized lentivirus for stable overexpression of HYLS1 
                         Customized lentivirus expression plasmids for stable overexpression of HYLS1 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for HYLS1
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HYLS1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HYLS1

    Additional mRNA sequence: 

    AK057477.1 AK127394.1 BC015047.1 

    6 DOTS entries:

    DT.101960561  DT.95163252  DT.100745196  DT.95163253  DT.100702788  DT.120687237 

    24/78 AceView cDNA sequences (see all 78):

    BQ686872 AA287677 BX376685 CR617648 CR610025 AA330855 CR625776 BM970011 
    BU159110 CR593293 BF592918 BE551540 CR599589 BE535869 AI922092 AK127394 
    BF062860 AA412414 CB141176 AA600853 NM_145014 AK057477 BQ421598 BE886904 

    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

    HYLS1 expression in normal human tissues (normalized intensities)      HYLS1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATACCAAGG
    HYLS1 Expression
    About this image


    HYLS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Testis (Reproductive System)
             sperm   
     
     Inner Cell Mass (Early Embryonic Tissues)
             Blimp1- mVenus and stella-ECFP genetically modified stem cells

    See HYLS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HYLS1

    SOURCE GeneReport for Unigene cluster: Hs.98133
        SABiosciences Custom PCR Arrays for HYLS1
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HYLS1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HYLS1

    (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 HYLS1 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hyls11 , 5 hydrolethalus syndrome 11, 5 84.5(n)1
    81.94(a)1
      9 (20.32 cM)5
    768321  NM_029762.11  NP_084038.11 
     355608205 
    chicken
    (Gallus gallus)
    Aves HYLS11 hydrolethalus syndrome 1 56.36(n)
    50(a)
      768796  XM_003642605.1  XP_003642653.1 
    lizard
    (Anolis carolinensis)
    Reptilia HYLS16
    Uncharacterized protein
    51(a)
    1 ↔ 1
    GL343322.1(196438-197813)


    ENSEMBL Gene Tree for HYLS1 (if available)
    TreeFam Gene Tree for HYLS1 (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, 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

    10/500 SNPs in HYLS1 are shown (see all 500)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048942321,2,4
    CHydrolethalus syndrome 1 (HLS1)4 pathogenic1125636321(+) GACAGA/GCCGGG 4 D G mis10--------
    rs1393974071,2
    --125618126(+) ATCCTA/GTGAAT 1 -- us2k10--------
    rs1834535311,2
    --125618134(+) AATAAA/TCCATG 1 -- us2k10--------
    rs1432675191,2
    --125618185(+) TCAAGA/TCATCA 1 -- us2k10--------
    rs1862287231,2
    --125618237(+) CTCTGG/TCTATT 1 -- us2k10--------
    rs71285441,2
    C,F,H--125618244(+) tattaT/Ccctcc 1 -- us2k14Minor allele frequency- C:0.00NS EA 416
    rs71124601,2
    C,F,H--125618296(+) tatctC/Tccact 1 -- us2k18Minor allele frequency- T:0.10NS EA NA WA 658
    rs1447912331,2
    --125618394(+) GCCCTC/TATCTG 1 -- us2k10--------
    rs1144859151,2
    C,F--125618414(+) CCATGC/GCCCAA 1 -- us2k11Minor allele frequency- G:0.13WA 118
    rs1835845461,2
    --125618553(+) TCTGTC/TTCTTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for HYLS1 (125753509 - 125770543 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for HYLS1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv468888CNV Loss19166990
    dgv248n67CNV Gain20364138
    esv32964CNV Gain+Loss17666407


    Human Gene Mutation Database (HGMD): HYLS1
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for HYLS1

    (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: 610693   
    OMIM disorders: 236680  
    UniProtKB/Swiss-Prot: HYLS1_HUMAN, Q96M11
  • Hydrolethalus syndrome 1 (HLS1) [MIM:236680]: A lethal syndrome characterized by polydactyly, central
    nervous system malformation, and hydrocephalus. The polydactyly is postaxial in the hands and preaxial in the
    feet. A highly characteristic hallux duplex is seen in almost no other situation. In half of the cases, a large
    atrioventricular communis defect of the heart is found. The pregnancy is characterized by hydramnios, which is
    often massive, and by preterm delivery. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 3 diseases for HYLS1:    About MalaCards
    hydrolethalus syndrome    hydrolethalus syndrome 1    polydactyly

    1 disease from the University of Copenhagen DISEASES database for HYLS1:
    Lymphoma

    HYLS1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): HYLS1
    Human Genome Epidemiology (HuGE) Navigator: HYLS1 (1 document)

    Export disorders for HYLS1 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 HYLS1 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with HYLS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1. (PubMed id 15843405)1, 2, 3, 9 Mee L.... Peltonen L. (2005)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    5. Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis. (PubMed id 18648327)1 Paetau A....Herva R. (2008)
    6. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    7. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    8. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (2006)
    9. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)
    10. 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)

    (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: 219844 HGNC: 26558 AceView: FLJ32915 Ensembl:ENSG00000198331 euGenes: HUgn219844
    ECgene: HYLS1 H-InvDB: HYLS1

    (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 HYLS1 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 HYLS1 gene:
    Search GeneIP for patents involving HYLS1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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