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KCNC3 Gene

protein-coding   GIFtS: 62

GC19M055510
potassium voltage-gated channel, Shaw-related subfamily, member 3
(Previous name: spinocerebellar ataxia 13 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: SCA13)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
KSHIIID 2, 3
KV3.3 2
Kv3.3 1
SCA13 2, 5
Descriptions
Shaw-related voltage-gated potassium channel protein 3 2
Voltage-gated potassium channel subunit Kv3.3 3
potassium voltage-gated channel, Shaw-related subfamily,
member 3 2
spinocerebellar ataxia 13 1
voltage-gated potassium channel protein KV3.3 2
External Ids
HGNC: 62351
Entrez Gene: 37482
UniProtKB: Q140033
Ensembl: ENSG000001313987
Search outside databases for aliases for KCNC3 gene

Previous GC identifers: GC19M051447 GC19M051180 GC19M055494

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for KCNC3:
The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is
comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these
subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed
rectifier class of channel proteins and is an integral membrane protein that mediates the
voltage-dependent potassium ion permeability of excitable membranes. [provided by RefSeq]

UniProtKB/Swiss-Prot: KCNC3_HUMAN, Q14003
Function: This protein mediates the voltage-dependent potassium ion permeability of excitable
membranes. Assuming opened or closed conformations in response to the voltage difference across
the membrane, the protein forms a potassium-selective channel through which potassium ions may
pass in accordance with their electrochemical gradient

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the KCNC3 gene  

Entrez Gene cytogenetic band: 19q13.3-q13.4   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.33

KCNC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M055510:     (about GC identifiers)

Start:
55,507,006 bp from pter
End:
55,524,446 bp from pter
Size:
17,441 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000019.8  NT_011109.15  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: KCNC3_HUMAN, Q14003 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily C member 3  
Size: 757 amino acids; 80578 Da
Subunit: Heterotetramer of potassium channel proteins (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_004968.2  

    ENSEMBL proteins: 
    ENSP00000375694 ENSP00000366158 ENSP00000303282 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Millipore Purified and/or Recombinant KCNC3 Protein
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (KCNC3)
    Human Recombinant Proteins from Abnova (KCNC3)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    3 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008076 voltage-gated potassium channel complex TAS1740329
    GO:0016020 membrane IEA--
    GO:0016021 integral to membrane IEA--
    About this table

    Antibodies for KCNC3: 
    Browse Antibodies Central at Invitrogen
    Millipore Mono- and Polyclonal Antibodies for the study of KCNC3
    Sigma-Aldrich Antibodies for KCNC3
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (KCNC3), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (KCNC3)
    Novus Biologicals Antibodies for KCNC3

    Assays for KCNC3: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    5/8 InterPro domains/families (see all 8 ):
     IPR005821 Ion_trans
     IPR000210 BTB/POZ-like
     IPR011333 BTB/POZ_fold
     IPR005404 K_chnl_volt-dep_Kv3.3
     IPR003968 K_chnl_volt-dep_Kv


       GeneDecks  KCNC3 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q14003

    ProtoNet protein and cluster: Q14003

    4 Blocks protein families:
    IPB000210 BTB/POZ domain
    IPB003091 Potassium channel signature
    IPB003974 Shaw voltage-gated K+ channel family signature
    IPB005404 Kv3.3 voltage-gated K+ channel signature


    UniProtKB/Swiss-Prot: KCNC3_HUMAN, Q14003
    Domain: The segment S4 is probably the voltage-sensor and is characterized by a series of
    positively charged amino acids at every third position
    Domain: The tail may be important in modulation of channel activity and/or targeting of the channel
    to specific subcellular compartments
    Similarity: Belongs to the potassium channel family. C (Shaw) subfamily

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (KCNC3)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (KCNC3)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004977

                  Applied Biosystems Silencer® siRNAs for KCNC3

                  Sigma-Aldrich siRNA and siRNA Panels for KCNC3  
                         Sigma-Aldrich shRNA Panels and shRNA for KCNC3  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Millipore Clones for the Expression of KCNC3
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_004977
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_004977
                                     untagged cDNA clone in CMV expression vector: NM_004977 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_004977

    UniProtKB/Swiss-Prot: KCNC3_HUMAN, Q14003
    Function: This protein mediates the voltage-dependent potassium ion permeability of excitable
    membranes. Assuming opened or closed conformations in response to the voltage difference across
    the membrane, the protein forms a potassium-selective channel through which potassium ions may
    pass in accordance with their electrochemical gradient

    Genatlas biochemistry entry for KCNC3:
    potassium voltage-gated channel,Drosophila Shaw-related subfamily,member 3 (mouse Kv3.3 homolog)

    4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Kcnc3):

    behavior/neurologicalmusclenervous systemnormal

    4 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005244 voltage-gated ion channel activity IEA--
    GO:0005249 voltage-gated potassium channel activity TAS1740329
    GO:0005515 protein binding IEA--
    GO:0030955 potassium ion binding IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    1 Millipore Pathway for KCNC3
      outward current

       GeneDecks  KCNC3 for the pathways selected above  
    About GeneDecksing


    5/50 Interacting proteins for KCNC3 (ENSP000003032823) via UniProtKB, MINT, and/or STRING (see all 50 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KCNH2ENSP000002621863STRING (score=.978)
    KCNK1ENSP000003555803STRING (score=.956)
    HCN2ENSP000002512873STRING (score=.946)
    KCNE1ENSP000003372553STRING (score=.925)
    KCNH1ENSP000002717513STRING (score=.919)
    About this table

    3 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811 ion transport IEA--
    GO:0006813 potassium ion transport TAS1740329
    GO:0008219 cell death IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Compounds for KCNC3 available from Tocris Bioscience
    CompoundAction CAS number
    AM 92016 hydrochlorideKV channel blocker[178894-81-0]
    KN-93CaM kinase II inhibitor. Also K+ channel blocker (KV)[139298-40-1]
    SG 209K+ channel opener[83440-03-3]
    4-AminopyridineK+ channel blocker[504-24-5]
    About this table


    1 Novoseek chemical compound relationship for KCNC3 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 51.79 3 1740329 (1), 18448641 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (KCNC3)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (KCNC3)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004977

                  Sigma-Aldrich siRNA and siRNA Panels for KCNC3  
                         Sigma-Aldrich shRNA Panels and shRNA for KCNC3  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_004977  

    REFSEQ mRNAs for KCNC3 gene: 

    NM_004977.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_004977  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_004977
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_004977
                                     untagged cDNA clone in CMV expression vector: NM_004977 

    Additional cDNA sequence: 

    AB208930.1 AF055989.1 AK127492.1 

    3 DOTS entries:

    DT.121420498  DT.401973  DT.92009059 

    21 AceView cDNA sequences:

    NM_004977 AW512445 AW148990 AI014603 AI796491 AW297613 BE552476 AW173117 
    AK127492 AF055989 BI087729 AI346263 AI365599 CD244420 BG991639 AA767342 
    AA860973 BM474777 H16352 BU101932 CB152030 

    highest scoring ESTs for KCNC3:

    AF055989 AI796491 AK127492 AW297613 NM_004977 AA767342 AA860973 AB208930 AI346263 AI365599 

    Unigene Cluster for KCNC3:

    Potassium voltage-gated channel, Shaw-related subfamily, member 3
    Hs.467146  [show with all ESTs]
    Unigene Representative Sequence: AB208930


    GeneLoc Exon Structure

    3 Ensembl transcripts including schematic representations:
    ENST00000391818  ENST00000376959  ENST00000305523  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    KCNC3 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for KCNC3

    1 / 2 / 3

    8 probe-sets matching KCNC3 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    73697_r_at2, 3 U95-E 1 1.00 1.00 0.74 1.20 AI796491 0.60 1.00 0.82 1

    31341_at2, 3 U95-A 2 1.00 0.97 0.88 0.81 AF055989 1.00 1.00 1.00 1

    230531_at2, 3 U133-B 1 1.00 1.00 -- -- AI796491 0.60 1.00 0.82 1

    207600_at2, 3 U133-A 1 1.00 1.00 -- -- NM_004977 0.60 1.00 0.82 1

    243893_at2, 3 U133-B 1 0.91 1.00 -- -- R19827 0.20 1.00 0.72 1

    230531_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    207600_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    243893_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    GeneDecks  KCNC3 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: CCCCCTTCCC

    SOURCE GeneReport for Unigene cluster: Hs.467146
    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for KCNC3 gene from 5/6 species (see all 6 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    rat
    (Rattus norvegicus)
    Kcnc31   -- potassium voltage gated channel, Shaw-related subfamily, more 88.09(n)
    95.98(a)
    117101  NM_053997.3  NP_446449.2 
    mouse
    (Mus musculus)
    Kcnc31, 5 7 (23.00 cM)5
    potassium voltage gated channel, Shaw-related subfamily, more1, 5 88.55(n)1
    95.84(a)1
    165041  NM_008422.21  NP_032448.21 
     AI8495315  AW4940565  (see all 11)
    zebrafish
    (Danio rerio)
    LOC5590961   -- similar to Kv3.3 potassium channel subunit 72.64(n)
    76.1(a)
    559096  XM_682403.2  XP_687495.2 
    fruit fly
    (Drosophila melanogaster)
    Shaw3 24C1--2 potassium ion transport voltage-gated
    potassium more
    47(a)
    (best of 2)
      --
    worm
    (Caenorhabditis elegans)
    shw-33 V(12975999-12978929) potassium channel protein 44(a)   --
    About this table        Species with no ortholog for KCNC3

    ENSEMBL Gene Tree for KCNC3
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for KCNC3 gene
    KCNC22  KCNC42  KCNC12  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/68 NCBI SNPs in KCNC3 are shown (see all 68 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 47)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 19 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs99171091,2
    C55510692(+) GAATCA/CGATGA 1 -- ut31 ese30--------
    --
    rs118828771,2
    C55526100(+) GGCTGA/GTTCGT 1 -- ng310--------
    --
    rs23013571,2
    F55518381(-) TATTCG/ACTGGC 1 S/S syn1 ese31Minor allele frequency- A:0.09EA 1468
    --
    rs23013561,2
    F55518483(-) AAGACG/ATGGTC 1 T/T syn1 ese31Minor allele frequency- A:0.00EA 1478
    rs6838561,2
    A,C,F,H,O55514220(-) CATTCC/AGCAAA 1 -- int120Minor allele frequency- A:0.48NS MN EU EA WA 1716
    rs118801031,2
    A,C,F,H55519512(+) TCCACG/AGGTTC 1 -- int14Minor allele frequency- A:0.35EU EA WA 402
    rs6365671,2
    A,C,F,H55519597(-) TCTGCT/CCAGCT 1 -- int110Minor allele frequency- C:0.31EA NA MN EU WA 836
    rs6048711,2
    C,F,H55522168(-) AGCCCG/CTTTCC 1 -- int19Minor allele frequency- C:0.48MN EU EA WA 1016
    --
    rs15591341,2
    A,F,O55512571(-) CATCAT/CGCATT 1 -- int11Minor allele frequency- C:0.08MN 184
    rs15591331,2
    C,F,H55512607(-) taaacG/Atgaag 1 -- int110Minor allele frequency- A:0.07NS MN EU EA WA 684
    About this table

    HapMap Linkage Disequilibrium images for KCNC3 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 176264   disorders: 605259  

    UniProtKB/Swiss-Prot: KCNC3_HUMAN, Q14003

  • Defects in KCNC3 are the cause of spinocerebellar ataxia type 13 (SCA13) [MIM:605259].
    Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar
    disorders. Patients show progressive incoordination of gait and often poor coordination of hands,
    speech and eye movements, due to degeneration of the cerebellum with variable involvement of the
    brainstem and spinal cord. SCA13 is an autosomal dominant cerebellar ataxia (ADCA) characterized
    by slow progression and variable age at onset, ranging from childhood to late adulthood. Mental
    retardation can be present in some patients
  • GeneTests: KCNC3

    Spinocerebellar Ataxia Type13

    Human Gene Mutation Database: KCNC3
    Human Genome Epidemiology Navigator: KCNC3 (1 document)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/12 PubMed articles for KCNC3 gene (see all 12 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Disorders
    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, and/or H-InvDB)
    About This Section

    Entrez Gene: 3748 HGNC: 6235 AceView: KCNC3 Ensembl:ENSG00000131398 euGenes: HUgn3748
    ECgene: KCNC3 H-InvDB: KCNC3
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    GeneReviewshttp://www.genetests.org/query?gene=KCNC3
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for KCNC3:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
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      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for KCNC3-related products

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     Predesigned and custom siRNAs for KCNC3 Antibodies for KCNC3
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for KCNC3 Browse small molecules at Sigma-Aldrich
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     Antibodies for KCNC3

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