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KCNH6 Gene

protein-coding   GIFtS: 54

GC17P058954
potassium voltage-gated channel, subfamily H (eag-related), member 6
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
ERG2 2, 3
HERG2 1, 2, 3
Kv11.2 1, 2
erg2 1
Descriptions
Eag-related protein 2 3
Ether-a-go-go-related gene potassium channel 2 3
Ether-a-go-go-related protein 2 3
Voltage-gated potassium channel subunit Kv11.2 3
eag related protein 2 2
eag-related gene member 2 2
ether-a-go-go related gene potassium channel 2 2
potassium voltage-gated channel, subfamily H (eag-related),
member 6 2
potassium voltage-gated channel, subfamily H, member 6 2
External Ids
HGNC: 188621
Entrez Gene: 810332
UniProtKB: Q9H2523
Ensembl: ENSG000001738267
Search outside databases for aliases for KCNH6 gene

Previous GC identifers: GC17P061251 GC17P064027 GC17P061941 GC17P062074

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

EntrezGene summary for KCNH6:
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion
channels from both functional and structural standpoints. Their diverse functions include
regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability,
epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a
member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha)
subunit. Several alternatively spliced transcript variants have been identified from this gene,
but the full-length nature of only two transcript variants has been determined. [provided by
RefSeq]

UniProtKB/Swiss-Prot: KCNH6_HUMAN, Q9H252
Function: Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a slowly
activating, rectifying current (By similarity). Channel properties may be modulated by cAMP and
subunit assembly

(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 KCNH6 gene  

Entrez Gene cytogenetic band: 17q23.3   Ensembl cytogenetic band:  17q23.3   HGNC cytogenetic band: 17q23.3

KCNH6 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 17         GeneLoc Exon Structure

GeneLoc location for GC17P058954:     (about GC identifiers)

Start:
58,954,427 bp from pter
End:
59,160,897 bp from pter
Size:
206,471 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000017.9  NT_010783.14  
(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)
About This Section

UniProtKB/Swiss-Prot: KCNH6_HUMAN, Q9H252 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily H member 6  
Size: 994 amino acids; 109925 Da
Subunit: The potassium channel is probably composed of a homo- or heterotetrameric complex of
pore-forming alpha subunits that can associate with modulating beta subunits. Heteromultimers with
KCNH2/ERG1 and KCNH7/ERG3 (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: Q9BRD7
Alternative splicing: 3 isoforms:  Q9H252-1   Q9H252-2   Q9H252-3   (Experimental confirmation may be lacking for some isoforms)

REFSEQ proteins (2 alternative transcripts): 
NP_110406.1  NP_775115.1  


ENSEMBL proteins: 
ENSP00000376695 ENSP00000309393 ENSP00000318212 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
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 (KCNH6)
Human Recombinant Proteins from Abnova (KCNH6)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

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

GO IDQualified GO termEvidencePubMed IDs
GO:0016020 membrane IEA--
GO:0016021 integral to membrane IEA--
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Antibodies for KCNH6: 
Browse Antibodies Central at Invitrogen
Millipore Mono- and Polyclonal Antibodies for the study of KCNH6
Sigma-Aldrich Antibodies for KCNH6
Browse R&D Systems for Antibodies
Antibodies from Abcam (KCNH6), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (KCNH6)
Novus Biologicals Antibody for KCNH6

Assays for KCNH6: 
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 ):
 IPR018488 cNMP_bd_CS
 IPR005821 Ion_trans
 IPR003967 K_chnl_volt-dep_ERG
 IPR000595 cNMP_bd
 IPR001610 PAC


   GeneDecks  KCNH6 for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry Q9H252

ProtoNet protein and cluster: Q9H252

5/7 Blocks protein families (see all 7 ):
IPB000014 PAS domain
IPB000595 Cyclic nucleotide-binding domain
IPB001610 PAC motif
IPB003938 EAG/ELK/ERG potassium channel family signature
IPB003950 ELK potassium channel family signature


UniProtKB/Swiss-Prot: KCNH6_HUMAN, Q9H252
Domain: The segment S4 is probably the voltage-sensor and is characterized by a series of
positively charged amino acids at every third position
Similarity: Belongs to the potassium channel family. H (Eag) subfamily
Similarity: Contains 1 cyclic nucleotide-binding domain
Similarity: Contains 1 PAC (PAS-associated C-terminal) domain
Similarity: Contains 1 PAS (PER-ARNT-SIM) domain

(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 (KCNH6)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (KCNH6)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_030779

              Applied Biosystems Silencer® siRNAs for KCNH6

              Sigma-Aldrich siRNA and siRNA Panels for KCNH6  
                     Sigma-Aldrich shRNA Panels and shRNA for KCNH6  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for KCNH6
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_030779
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_030779
                                 untagged cDNA clones in CMV expression vector (see all 4): BC006334 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_030779

UniProtKB/Swiss-Prot: KCNH6_HUMAN, Q9H252
Function: Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a slowly
activating, rectifying current (By similarity). Channel properties may be modulated by cAMP and
subunit assembly

1 MGI phenotypic allele for Kcnh6 (no phenotypes)


3 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 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 KCNH6
  inward current

   GeneDecks  KCNH6 for the pathways selected above  
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5/8 Interacting proteins for KCNH6 (ENSP000003182123) via UniProtKB, MINT, and/or STRING (see all 8 )
InteractantInteraction Details
GeneCardExternal ID(s)
ERGENSP000002883193STRING (score=.873)
BRCA1ENSP000003502833STRING (score=.848)
ETS2ENSP000003533443STRING (score=.833)
ETS1ENSP000003245783STRING (score=.83)
TMPRSS2ENSP000003303303STRING (score=.744)
About this table

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

GO IDQualified GO termEvidencePubMed IDs
GO:0006355 regulation of transcription, DNA-dependent IEA--
GO:0006811 ion transport IEA--
GO:0006813 potassium ion transport IEA--
GO:0007165 signal transduction 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

Enzo Life Sciences drugs & compounds for KCNH6
Browse Small Molecules at Sigma-Aldrich

Compounds for KCNH6 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]
E-4031 dihydrochlorideHERG channel blocker; inhibits rapid delayed rectifier K+ current (IKr)[113559-13-0]
4-AminopyridineK+ channel blocker[504-24-5]
About this table


3 Novoseek chemical compound relationships for KCNH6 gene
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
ergosterol 76.27 1 11353609 (1)
sterol 70.37 2 15855491 (1), 16033255 (1)
squalene 63.81 1 15328107 (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 (KCNH6)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (KCNH6)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_030779

              Sigma-Aldrich siRNA and siRNA Panels for KCNH6  
                     Sigma-Aldrich shRNA Panels and shRNA for KCNH6  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_030779  NM_173092  

REFSEQ mRNAs for KCNH6 gene (2 alternative transcripts): 

NM_030779.2   NM_173092.1   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_030779  NM_173092  

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_030779
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_030779
                                 untagged cDNA clones in CMV expression vector (see all 4): BC006334 

Additional cDNA sequence: 

AF311913.1 AK090969.1 AK091877.1 AK296498.1 AK298363.1 BC006334.2 

4 DOTS entries:

DT.92001686  DT.40246903  DT.91740938  DT.91853909 

24/25 AceView cDNA sequences (see all 25 ):

BU170580 AF311913 NM_173092 NM_030779 BM561167 CD632739 BF685466 CD632735 
AX746709 CD632727 BM461490 CD632733 CD632731 CD632729 BG395842 BC006334 
AX747233 AK091877 H96171 AA908657 AK090969 BE465143 BE672839 CD632737 

highest scoring ESTs for KCNH6:

AA908657 AK091877 AF311913 AI699256 AK090969 BC006334 BE465143 BE672839 BF685466 BG395842 

Unigene Cluster for KCNH6:

Potassium voltage-gated channel, subfamily H (eag-related), member 6
Hs.591177  [show with all ESTs]
Unigene Representative Sequence: NM_030779


GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for KCNH6

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16
SP1:                                                        -                                   -                       -         
SP2:                                                        -                                                                     
SP3:                                                                                            -                                 
SP4:                                                                                                                              

About this scheme

ECgene alternative splicing isoforms for KCNH6

3 Ensembl transcripts including schematic representations:
ENST00000392968  ENST00000350328  ENST00000314672  
(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

KCNH6 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for KCNH6

1 / 2 / 3

7 probe-sets matching KCNH6 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
86319_at2, 3 U95-D 1 0.62 1.00 1.00 1.00 AA908657 0.80 1.00 0.91 1

211045_s_at2, 3 U133-A 1 1.00 1.00 -- -- BC006334 0.60 1.00 0.82 1

221023_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_030779 0.60 1.00 0.82 1

211046_at2, 3 U133-A 1 1.00 1.00 -- -- BC006334 0.60 1.00 0.82 1

211045_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

221023_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

211046_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  KCNH6 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: TCAGGACAGT

SOURCE GeneReport for Unigene cluster: Hs.591177

UniProtKB/Swiss-Prot: KCNH6_HUMAN, Q9H252
Tissue specificity: Expressed in prolactin-secreting adenomas

(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 KCNH6 gene from 5/11 species (see all 11 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
KCNH61   -- potassium voltage-gated channel, subfamily H (eag-related), more 89.35(n)
90.37(a)
610684  XM_848226.1  XP_853319.1 
cow
(Bos taurus)
KCNH61   -- potassium voltage-gated channel, subfamily H (eag-related), more 90.04(n)
91.82(a)
527872  XM_867795.2  XP_872888.2 
rat
(Rattus norvegicus)
Kcnh61   -- potassium voltage-gated channel, subfamily H (eag-related), more 87.16(n)
90.32(a)
116745  NM_053937.1  NP_446389.1 
mouse
(Mus musculus)
Kcnh61, 5 115
potassium voltage-gated channel, subfamily H (eag-related), more1, 5 87.51(n)1
90.74(a)1
1927751  NM_001037712.11  NP_001032801.11 
 AK0385135  AL5963315  (see all 7)
chicken
(Gallus gallus)
KCNH61   -- potassium voltage-gated channel, subfamily H (eag-related), more 72.6(n)
70.67(a)
414871  XM_418075.2  XP_418075.2 
About this table        Species with no ortholog for KCNH6

ENSEMBL Gene Tree for KCNH6
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for KCNH6 gene
KCNH22  KCNH72  

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


10/113 NCBI SNPs in KCNH6 are shown (see all 113 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 50)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 17 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs358198071,2
C,F58976784(-) TGTCCG/ATTGCC 2 M/T mis15Minor allele frequency- A:0.13NA EU EA WA 450
--
rs353990621,2
F58961453(-) TGGTCC/TGCCTG 2 G/R mis11Minor allele frequency- T:0.07NA 30
--
rs98902631,2
C58977373(+) CAGCCC/TCCCAG 2 -- ng31 int10--------
rs38150041,2
H58953056(+) TGCCTA/GAGGTG 2 -- ng51 tfbs35Minor allele frequency- G:0.01EA EU WA 1908
rs72255681,2
A,C,F,H58965155(+) AGCGAC/TCAGGA 2 D/D syn113Minor allele frequency- N:0.00NA EA EU WA 1060
rs72247161,2
C,F,H58965125(+) TTCACG/ACCCTA 2 T/T syn1 ese35Minor allele frequency- A:0.04EU EA WA NA 434
rs72215171,2
C,F58961440(+) TCTCAT/CGGCAG 2 H/H syn1 ese31Minor allele frequency- C:0.33NA 30
rs351660121,2
F58976731(-) GGACTA/GCAGTC 2 C/C syn11Minor allele frequency- G:0.07NA 30
rs72219791,2
A,C,F,H58968249(+) CCCAGA/GTAGTG 2 -- int18Minor allele frequency- N:0.00EU EA WA NA 634
rs49686561,2
A,C,F,H58970691(+) TCCCCA/GTCACT 2 -- int112Minor allele frequency- G:0.22EU EA WA NA 1202
About this table

HapMap Linkage Disequilibrium images for KCNH6 (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: 608168

(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

10/20 PubMed articles for KCNH6 gene (see all 20 ):
(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, and/or H-InvDB)
About This Section

Entrez Gene: 81033 HGNC: 18862 AceView: KCNH6 Ensembl:ENSG00000173826 euGenes: HUgn81033
ECgene: KCNH6 H-InvDB: KCNH6
(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

  --
(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 KCNH6:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



  Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
  Invitrogen Antibodies  Invitrogen Assays
  Invitrogen Clones  Invitrogen Q-PCR Products
  Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
  Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for KCNH6-related products

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 Predesigned and custom siRNAs for KCNH6 Antibodies for KCNH6
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 Antibodies for KCNH6

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