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GABRE Gene

protein-coding   GIFtS: 63

GC0XM150873
gamma-aminobutyric acid (GABA) A receptor, epsilon
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
OTTHUMP00000025892 2
Descriptions
GABA(A) receptor 2
GABA(A) receptor subunit epsilon 3
gamma-aminobutyric acid (GABA) A receptor, epsilon 2
gamma-aminobutyric acid A receptor, epsilon 1
External Ids
HGNC: 40851
Entrez Gene: 25642
UniProtKB: P783343
Ensembl: ENSG000001022877
Search outside databases for aliases for GABRE gene

Previous GC identifers: GC0XM145456 GC0XM147779 GC0XM148869 GC0XM149739 GC0XM150792

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

EntrezGene summary for GABRE:
The product of this gene belongs to the ligand-gated ionic channel (TC 1.A.9) family. It encodes
the gamma-aminobutyric acid (GABA) A receptor which is a multisubunit chloride channel that
mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene
encodes an epsilon subunit. It is mapped to chromosome Xq28 in a cluster comprised of genes
encoding alpha 3, beta 4 and theta subunits of the same receptor. Alternatively spliced transcript
variants have been identified, but only one is thought to encode a protein. [provided by RefSeq]

UniProtKB/Swiss-Prot: GBRE_HUMAN, P78334
Function: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal
inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel

Gene Wiki entry for GABRE

(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)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the GABRE gene  

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

GABRE 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 X         GeneLoc Exon Structure

GeneLoc location for GC0XM150873:     (about GC identifiers)

Start:
150,872,252 bp from pter
End:
150,893,807 bp from pter
Size:
21,556 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000023.9  NT_011726.13  
(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: GBRE_HUMAN, P78334 (See protein sequence)
Recommended Name: Gamma-aminobutyric acid receptor subunit epsilon precursor  
Size: 506 amino acids; 57972 Da
Subunit: Generally pentameric. Associates with alpha and beta subunits
Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane
protein. Cell membrane; Multi-pass membrane protein
Secondary accessions: O15345 O15346 Q99520

REFSEQ proteins (4 alternative transcripts): 
NP_004952.2  NP_068819.2  NP_068822.1  NP_068830.1  


ENSEMBL proteins: 
ENSP00000359353 ENSP00000352321 ENSP00000377491 ENSP00000359350 


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 (GABA Receptor Epsilon)
Human Recombinant Proteins from Abnova (GABRE)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005886 plasma membrane IEA--
GO:0005887 integral to plasma membrane TAS9039914
GO:0030054 cell junction IEA--
GO:0045202 synapse IEA--
GO:0045211 postsynaptic membrane IEA--
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Antibodies for GABRE: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for GABRE
Browse R&D Systems for Antibodies
Antibodies from Abcam (GABA Receptor Epsilon), each with their AbpromiseSM
Browse Abnova for Monoclonal and Polyclonal Antibodies
Search Novus for antibodies for GABRE

Assays for GABRE: 
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

5/6 InterPro domains/families (see all 6 ):
 IPR018000 Neurotransmitter_ion_chnl_CS
 IPR006028 GABAA_rcpt
 IPR006201 Neur_channel
 IPR008099 GABAAe_rcpt
 IPR006029 Neu_channel_TM


   GeneDecks  GABRE for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry P78334

ProtoNet protein and cluster: P78334

3 Blocks protein families:
IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature
IPB006201 Neurotransmitter-gated ion-channel
IPB008099 Gamma-aminobutyric-acid A receptor epsilon subunit signature


UniProtKB/Swiss-Prot: GBRE_HUMAN, P78334
Similarity: Belongs to the ligand-gated ionic channel (TC 1.A.9) family

(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.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (GABRE)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (GABRE)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_021984

              Applied Biosystems Silencer® siRNAs for GABRE

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

Clones:Invitrogen Clones for GABRE
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_004961
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_004961
                                 untagged cDNA clones in CMV expression vector (see all 5): NM_004961 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_004961

UniProtKB/Swiss-Prot: GBRE_HUMAN, P78334
Function: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal
inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel

Genatlas biochemistry entry for GABRE:
gamma-aminobutyric acid (GABA) A receptor,ionotropic,epsilon,predominantly expressed in adult
brain,subunit,component of a pentameric receptor mediating inhibitory neurotransmission,clustered
with GABRA3 and GABRB4

5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

GO IDQualified GO termEvidencePubMed IDs
GO:0004890 GABA-A receptor activity TAS9039914
GO:0005216 ion channel activity IEA--
GO:0005230 extracellular ligand-gated ion channel activity IEA--
GO:0005254 chloride channel activity IEA--
GO:0030594 neurotransmitter receptor activity 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.)
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1 Millipore Pathway for GABRE
 GABA signaling in brain

   GeneDecks  GABRE for the pathways selected above  
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for  GABRE  (Your Favorite Gene powered by Ingenuity) 
 GABA Receptor Signaling

   GeneDecks  GABRE for the pathways selected above  
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1 Kegg Pathway  (Kegg details for GABRE):
 hsa04080 Neuroactive ligand-receptor interaction

   GeneDecks  GABRE for the pathways selected above  
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5/18 Interacting proteins for GABRE (ENSP000003593533) via UniProtKB, MINT, and/or STRING (see all 18 )
InteractantInteraction Details
GeneCardExternal ID(s)
GABRQENSP000002763693STRING (score=.826)
GABRA2ENSP000003488973STRING (score=.82)
GABRA3ENSP000003593373STRING (score=.82)
GABRA4ENSP000002643183STRING (score=.816)
GABRB3ENSP000003724793STRING (score=.815)
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2 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006811 ion transport IEA--
GO:0007214 gamma-aminobutyric acid signaling pathway TAS9039914
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 GABRE
Browse Small Molecules at Sigma-Aldrich

Compounds for GABRE available from Tocris Bioscience
CompoundAction CAS number
MuscimolPotent GABAA agonist[2763-96-4]
(+)-BicucullinePotent GABAA antagonist[485-49-4]
IndiplonSubtype-selective GABAA receptor positive allosteric modulator[325715-02-4]
L-655,708Selective for alpha5-containing GABAA receptors[130477-52-0]
SR 95531 hydrobromideSelective, competitive GABAA receptor antagonist[104104-50-9]
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)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (GABRE)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (GABRE)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_021984

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

Applied Biosystems Silencer® siRNAs: 

NM_004961  

REFSEQ mRNAs for GABRE gene (4 alternative transcripts): 

NM_004961.3   NM_021984.2   NM_021987.2   NM_021990.2   

NM_004961  

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_004961
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_004961
                                 untagged cDNA clones in CMV expression vector (see all 5): NM_004961 

Additional cDNA sequence: 

AF086385.1 AK299174.1 AK303072.1 BC026337.1 BC047108.1 BC059376.1 CR591394.1 U66661.1 
Y07637.1 Y09765.1 

11 DOTS entries:

DT.443863  DT.95350380  DT.91825239  DT.100816070  DT.91755826  DT.97833425  DT.115945  DT.95107482 
DT.91750087  DT.91755827  DT.121289670 

24/125 AceView cDNA sequences (see all 125 ):

U66661 AA954089 AI682740 BX478724 AA347289 Y09765 NM_021984 CR591394 
BU732085 AI432632 AA855126 AI963395 U92285 CD671953 CA310783 NM_021987 
BM678523 AI400573 AI334197 BQ016181 AI824213 C00867 CD369824 AI279924 

highest scoring ESTs for GABRE:

Y09765 AL603607 BG714934 BG716264 BI667764 CN481624 CN484232 AA299532 AA321214 AA347289 

Unigene Cluster for GABRE:

Gamma-aminobutyric acid (GABA) A receptor, epsilon
Hs.22785  [show with all ESTs]
Unigene Representative Sequence: BC026337


GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for GABRE (see all 10 )

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c ^ 14a · 14b
SP1:                    -     -     -           -     -                                   -     -     -     -                             -               
SP2:                    -           -           -     -                                                                                                   
SP3:                                                                          -           -                                                               
SP4:                                                                                                                                      -               
SP5:                                                                                                        -                                             

About this scheme

ECgene alternative splicing isoforms for GABRE

4 Ensembl transcripts including schematic representations:
ENST00000370328  ENST00000359363  ENST00000393914  ENST00000370325  
(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

GABRE expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for GABRE

1 / 2 / 3

3 probe-sets matching GABRE gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
34280_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 Y09765 1.00 0.87 0.94 1

204537_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_004961 0.60 1.00 0.82 1

204537_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  GABRE 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: CCCCAATGCT

SOURCE GeneReport for Unigene cluster: Hs.22785

Expression variation in blood from EXPOLDB for GABRE

UniProtKB/Swiss-Prot: GBRE_HUMAN, P78334
Tissue specificity: Expressed in many tissues. Highest levels of expression in adult heart and
placenta

(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 GABRE gene from 5/6 species (see all 6 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
GABRE1   -- gamma-aminobutyric acid (GABA) A receptor, epsilon 85.32(n)
79.25(a)
492220  XM_549340.2  XP_549340.2 
chimpanzee
(Pan troglodytes)
GABRE1   -- gamma-aminobutyric acid (GABA) A receptor, epsilon 99.49(n)
99.49(a)
465911  XM_521310.2  XP_521310.2 
cow
(Bos taurus)
GABRE1   -- gamma-aminobutyric acid (GABA) A receptor, epsilon 81.56(n)
73.77(a)
524115  XM_602435.3  XP_602435.2 
rat
(Rattus norvegicus)
Gabre1   -- gamma-aminobutyric acid (GABA) A receptor, epsilon 78.5(n)
73.2(a)
65191  NM_023091.1  NP_075579.1 
mouse
(Mus musculus)
Gabre1, 5 X5
gamma-aminobutyric acid (GABA) A receptor, subunit more5
gamma-aminobutyric acid (GABA-A) receptor, subunit more1
77.97(n)1
72.03(a)1
144041  NM_017369.21  NP_059065.21 
 AF0903765  AF1892635  (see all 12)
About this table        Species with no ortholog for GABRE

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

Paralogs for GABRE gene
GABRG22  GABRG12  GABRG32  

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


10/151 NCBI SNPs in GABRE are shown (see all 151 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 91)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr X posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs10614211,2
C,F,H,O150873252(-) TGCAGA/TTAGAT 4 -- ut31 ese39Minor allele frequency- T:0.20EU EA WA NA 742
rs10614181,2
C,F,H150873636(-) TGAGTT/CTTCTC 4 -- ut31 ese38Minor allele frequency- C:0.42MN EU EA WA NA 746
rs59701701,2
C,F,H150872904(+) GCGAGT/CAATGC 4 -- ut31 ese311Minor allele frequency- C:0.07EU EA WA NA 764
rs10614201,2
C,F,H150873428(-) CTTTGT/CAGTGC 4 -- ut317Minor allele frequency- C:0.17EU EA WA NA 552
rs11399161,2
C,F,H150888835(-) AGATCG/TCCGTC 4 S/A mis1 ut518Minor allele frequency- T:0.22EU EA WA 547
--
rs70543911,2
F,H150872102(+) TTCCTT/CACTAA 4 -- ng514Minor allele frequency- C:0.03EU EA WA 382
--
rs10614171,2
C,H150873846(-) GGCTTG/TTTTGC 4 V/F mis15Minor allele frequency- T:0.00MN EU EA WA 604
rs78820311,2
H150873147(+) CAGCAA/TGGAGA 4 -- ut31 ese3 trp34Minor allele frequency- T:0.00EU EA WA 414
rs70601351,2
A150873657(+) CAGGTA/CGGGGA 4 -- ut31 ese3 trp30--------
rs28563861,2
H150879016(+) AAATCA/CAACTG 4 F/L mis14Minor allele frequency- C:0.00EU EA WA 402
About this table

HapMap Linkage Disequilibrium images for GABRE (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: 300093

Human Genome Epidemiology Navigator: GABRE (4 documents)

(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 GABRE 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: 2564 HGNC: 4085 AceView: GABRE Ensembl:ENSG00000102287 euGenes: HUgn2564
ECgene: GABRE H-InvDB: GABRE
(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)
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  --
(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 GABRE:
 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
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 Predesigned and custom siRNAs for GABRE Antibodies for GABRE
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for GABRE Browse small molecules at Sigma-Aldrich
 "Your Favorite Gene" Pathwaysfeedback


  
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 Recombinant Proteins
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 Search OriGene for GABRE
 Tocris compounds for GABRE




 Drugs for GABRE
 Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
 Search Novus for antibodies for GABRE

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