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

HSCB Gene

protein-coding   GIFtS: 54
GCID: GC22P029138

HscB iron-sulfur cluster co-chaperone homolog (E. coli)

 Explore 12 diseases affiliated with
HSCB via our new
 Human Malady Compendium 
Biological research products
for HSCB
    

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

Aliases
HscB Iron-Sulfur Cluster Co-Chaperone Homolog (E. Coli)1 2     DJ366L4.21
HSC201 2 3 5     DnaJ (Hsp40) Homolog, Subfamily C, Member 202
DNAJC201 2 3     Iron-Sulfur Cluster Co-Chaperone Protein HscB, Mitochondrial2
DnaJ Homolog Subfamily C Member 202 3     J-Type Co-Chaperone HSC202
JAC12 5     Hsc203
Jac11     

External Ids:    HGNC: 289131   Entrez Gene: 1502742   Ensembl: ENSG000001002097   OMIM: 6081425   UniProtKB: Q8IWL33   

Export aliases for HSCB gene to outside databases

Previous GC identifers: GC22P027468 GC22P012103


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

UniProtKB/Swiss-Prot: HSC20_HUMAN, Q8IWL3
Function: Acts as a co-chaperone in iron-sulfur cluster assembly in mitochondria




(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_000022.10  NC_018933.1  NT_011520.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HSCB gene promoter:
         SREBP-1a   p300   IRF-7A   STAT3   CUTL1   Pax-4a   SREBP-1b   
         Other transcription factors

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

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


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

Entrez Gene cytogenetic band: 22q12.1   Ensembl cytogenetic band:  22q12.1   HGNC cytogenetic band: 22q12.1

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

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P029138:  view genomic region     (about GC identifiers)

Start:
29,138,019 bp from pter      End:
29,153,503 bp from pter
Size:
15,485 bases      Orientation:
plus 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: HSC20_HUMAN, Q8IWL3 (See protein sequence)
Recommended Name: Iron-sulfur cluster co-chaperone protein HscB, mitochondrial precursor  
Size: 235 amino acids; 27422 Da
Subunit: Interacts with ISCU and HSPA9
Subcellular location: Cytoplasm. Mitochondrion
1 PDB 3D structure from and Proteopedia for HSCB:
3BVO (3D)    
Secondary accessions: Q9BWS7

Explore the universe of human proteins at neXtProt for HSCB: NX_Q8IWL3

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IWL3

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

    REFSEQ proteins: NP_741999.3  
    ENSEMBL proteins: 
     ENSP00000216027   ENSP00000406284   ENSP00000381914   ENSP00000416679  
    Reactome Protein details: Q8IWL3
    Human Recombinant Protein Products: 
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    Novus Biologicals HSCB Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for HSCB
    Uscn Proteins for HSCB

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion TAS12938016


    HSCB for ontologies           About GeneDecksing



    HSCB Antibody Products: 
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    Uscn ELISAs and CLIAs for HSCB


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

    HSCB for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR009073 Heat_shock_cognate_B_oligo_C
     IPR001623 DnaJ_domain
     IPR004640 HscB

    Graphical View of Domain Structure for InterPro Entry Q8IWL3

    ProtoNet protein and cluster: Q8IWL3

    1 Blocks protein family: IPB012895 HSCB oligomerisation

    UniProtKB/Swiss-Prot: HSC20_HUMAN, Q8IWL3
    Similarity: Belongs to the HscB family
    Similarity: Contains 1 J 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: HSC20_HUMAN, Q8IWL3
    Function: Acts as a co-chaperone in iron-sulfur cluster assembly in mitochondria

    miRNA
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    Inhib. RNA
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding IPI--
    GO:0031072heat shock protein binding IEA--
    GO:0046872metal ion binding IEA--
    GO:0051087chaperone binding IEA--


    HSCB for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for HSCB:
     Synthetic lethal with Ras 


    (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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Mitochondrial Protein Import
    Mitochondrial Protein Import1.00
    2Asparagine N-linked glycosylation
    Metabolism of proteins0.15

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2        Reactome Pathways for HSCB
        Mitochondrial Protein Import
    Metabolism of proteins


    UniProtKB/Swiss-Prot: HSC20_HUMAN, Q8IWL3
    Pathway: Cofactor biosynthesis; iron-sulfur cluster biosynthesis


    HSCB for pathways           About GeneDecksing

    Interactions:

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

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/11 Interacting proteins for HSCB (Q8IWL33 ENSP000002160274) via UniProtKB, MINT, STRING, and/or I2D (see all 11)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    BBS2Q9BXC93, ENSP000002451574I2D: score=1 STRING: ENSP00000245157
    BBS4Q96RK43, ENSP000002680574I2D: score=1 STRING: ENSP00000268057
    BBS1Q8NFJ93I2D: score=1 
    ISCUENSP000003106234STRING: ENSP00000310623
    DPP3ENSP000003537014STRING: ENSP00000353701
    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:0006457protein folding IEA--
    GO:0016226iron-sulfur cluster assembly IMP--


    HSCB 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 HSCB

    1 HMDB Compound for HSCB    About this table
    CompoundSynonyms CAS #PubMed Ids
    IronArmco iron (see all 19)7439-89-6--
    Search CenterWatch for drugs/clinical trials and news about HSCB / HSC20 

    (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 HSCB gene: 
    NM_172002.3  

    Unigene Cluster for HSCB:

    HscB iron-sulfur cluster co-chaperone homolog (E. coli)
    Hs.632780  [show with all ESTs]
    Unigene Representative Sequence: BF686324
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000216027(uc003aea.3) ENST00000450178 ENST00000398941 ENST00000420442
    ENST00000485599 ENST00000483861 ENST00000495977

    miRNA
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    Inhib. RNA
    Products:
         
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HSCB
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    Additional cDNA sequence: 

    AY191719.1 BC065569.1 CR456462.1 

    6 DOTS entries:

    DT.100881586  DT.92419123  DT.106300  DT.120637807  DT.100881578  DT.40302327 

    24/54 AceView cDNA sequences (see all 54):

    CB046828 AI739537 AI203804 NM_172002 BI518530 CR456462 BM811398 BC065569 
    BC000004 BQ642442 AI141716 BQ054405 BU195420 AA804625 BU069809 AI796137 
    AI826906 BE856024 BU858060 AY191719 BG696148 BE327697 BM852301 AW250733 

    GeneLoc Exon Structure

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

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


    ECgene alternative splicing isoforms for HSCB

    (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

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

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

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

    SOURCE GeneReport for Unigene cluster: Hs.632780

    UniProtKB/Swiss-Prot: HSC20_HUMAN, Q8IWL3
    Tissue specificity: Expressed in lung, brain, stomach, spleen, ovary, testis, liver, muscle and heart

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSCB

    (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 last universal common ancestor (LUCA).

    Orthologs for HSCB gene from 9/29 species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hscb1 , 5 HscB iron-sulfur cluster co-chaperone homolog (E. coli)1, 5 80.48(n)1
    73.5(a)1
      5 (53.72 cM)5
    1009001  NM_153571.21  NP_705799.21 
     1108290705 
    chicken
    (Gallus gallus)
    Aves HSCB1 HscB iron-sulfur cluster co-chaperone homolog (E. coli) 62.76(n)
    55.61(a)
      768938  XM_003642207.1  XP_003642255.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia AW633901.12   -- 68.72(n)    AW633901.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-207k7.41 si:ch211-207k7.4 54.53(n)
    46.74(a)
      100150029  NM_001128398.1  NP_001121870.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta l(3)72Do1 lethal (3) 72Do 45.2(n)
    32.46(a)
      5740624  NM_001104146.2  NP_001097616.1 
    worm
    (Caenorhabditis elegans)
    Secernentea dnj-156
    DNaJ domain (prokaryotic heat shock protein) famil...
    28(a)
    1 ↔ 1
    IV(4176379-4178354)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G064101 molecular chaperone HscB 49.82(n)
    34.41(a)
      830529  NM_120724.2  NP_196259.2 
    rice
    (Oryza sativa)
    Liliopsida Os12g04562001 hypothetical protein 46.81(n)
    37.16(a)
      4352172  NM_001073261.1  NP_001066729.1 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria hscB6
    DnaJ-like molecular chaperone specific for IscU
    27(a)
    1 ↔ 1
    Chromosome(2656974-2657489)


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

    10/311 NCBI SNPs in HSCB are shown (see all 311    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1875134001,2
    C,--29139897(+) ACAGCA/GAAGCT 2 A syn10--------
    rs2008840851,2
    --29139978(+) TATTGA/GCCAAC 1 -- int10--------
    rs1504607941,2
    --29140231(+) GCCTGC/TCCATT 1 -- int10--------
    rs178851091,2
    C,F,--29140282(-) GATTAC/TAGGCG 1 -- int11Minor allele frequency- T:0.01NS 168
    rs1495900801,2
    --29140403(+) AGTGCA/CGTGAC 1 -- int10--------
    rs768330051,2
    C,--29140421(+) TGTAGT/GCCCAG 1 -- int12Minor allele frequency- G:0.10WA 120
    rs178827001,2
    C,F,--29140494(-) GGCGCG/AAACTC 1 -- int12Minor allele frequency- A:0.02NS WA 292
    rs96255511,2
    C,F,H,--29140529(+) TCAACG/ATCAAA 1 -- int18Minor allele frequency- A:0.06NS EA NA 836
    rs731706291,2
    C,,--29140559(+) AACTTC/TGTGAT 1 -- int10--------
    rs1450534391,2
    C,--29140662(+) ACCCTC/TCTGGC 2 L syn10--------

    HapMap Linkage Disequilibrium report for HSCB (29138019 - 29153503 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for HSCB: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HSCB
    DNA2.0 Custom Variant and Variant Library Synthesis for HSCB

    (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

    HSCB for disorders           About GeneDecksing

    OMIM gene information: 608142    OMIM disorders: --

    12 diseases for HSCB:    About MalaCards
    x-linked sideroblastic anemia    x-linked sideroblastic anemia with ataxia    sideroblastic anemia    friedreich ataxia
    esophageal squamous cell carcinoma    squamous cell carcinoma    ataxia    esophagitis
    anemia    carcinoma    adenocarcinoma    malaria

    2 diseases from the University of Copenhagen DISEASES database for HSCB:
    X-linked sideroblastic anemia with ataxia     Friedreich ataxia
    Human Genome Epidemiology (HuGE) Navigator: HSCB (1 document)

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

    1. Identification of a novel candidate gene in the iron-sulfur pathway implicated in ataxia-susceptibility: human gene encoding HscB, a J- type co-chaperone. (PubMed id 12938016)1, 2, 3, 9 Sun G.... Vickery L.E. (2003)
    2. Characterization of the human HSC20, an unusual DnaJ type III protein, involved in iron-sulfur cluster biogenesis. (PubMed id 20668094)1, 2 Uhrigshardt H....Rouault T.A. (2010)
    3. Structure of human J-type co-chaperone HscB reveals a tetracysteine metal-binding domain. (PubMed id 18713742)1, 2 Bitto E.... Phillips G.N. Jr. (2008)
    4. The diversity of the DnaJ/Hsp40 family, the crucial partners for Hsp70 chaperones. (PubMed id 16952052)1, 3 Qiu X.B....Wang L. (2006)
    5. 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)
    6. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    7. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. A shared susceptibility locus in PLCE1 at 10q23 for g astric adenocarcinoma and esophageal squamous cell carcinoma. (PubMed id 20729852)1 Abnet C.C....Taylor P.R. (2010)
    10. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)

    (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)
    About This Section
    Entrez Gene: 150274 HGNC: 28913 AceView: HSC20 Ensembl:ENSG00000100209 euGenes: HUgn150274
    ECgene: HSCB H-InvDB: HSCB

    (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 HSCB 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 HSCB gene:
    Search GeneIP for patents involving HSCB

    GeneCards and IP:
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