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GABRA4 Gene

protein-coding   GIFtS: 63

GC04M046615
gamma-aminobutyric acid (GABA) A receptor, alpha 4
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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Descriptions
GABA(A) receptor subunit alpha-4 3
gamma-aminobutyric acid (GABA) A receptor, alpha 4 2
gamma-aminobutyric acid A receptor, alpha 4 2
External Ids
HGNC: 40781
Entrez Gene: 25572
UniProtKB: P481693
Ensembl: ENSG000001091587
Search outside databases for aliases for GABRA4 gene

Previous GC identifers: GC04M047001 GC04M047239 GC04M046778 GC04M046836 GC04M046761

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for GABRA4:
GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A
receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be
modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct
subunits of GABA-A receptors have been identified. [provided by RefSeq]

UniProtKB/Swiss-Prot: GBRA4_HUMAN, P48169
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 GABRA4

(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 GABRA4 gene  

Entrez Gene cytogenetic band: 4p12   Ensembl cytogenetic band:  4p12   HGNC cytogenetic band: 4p12

GABRA4 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 4         GeneLoc Exon Structure

GeneLoc location for GC04M046615:     (about GC identifiers)

Start:
46,615,674 bp from pter
End:
46,690,337 bp from pter
Size:
74,664 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000004.10  NT_006238.10  
(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: GBRA4_HUMAN, P48169 (See protein sequence)
Recommended Name: Gamma-aminobutyric acid receptor subunit alpha-4 precursor  
Size: 554 amino acids; 61623 Da
Subunit: Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma,
delta, and rho
Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane
protein. Cell membrane; Multi-pass membrane protein
Secondary accessions: Q8IYR7

REFSEQ proteins: NP_000800.2  

ENSEMBL proteins: 
ENSP00000264318 


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 A Receptor alpha 4)
Human Recombinant Proteins from Abnova (GABRA4)
                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 TAS8719416
GO:0030054 cell junction IEA--
GO:0045202 synapse IEA--
GO:0045211 postsynaptic membrane IEA--
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Antibodies for GABRA4: 
Invitrogen Antibodies for GABRA4
Millipore Mono- and Polyclonal Antibodies for the study of GABRA4
Browse Antibodies at Sigma-Aldrich
R&D Systems Antibodies for GABRA4 (GABA-A-R alpha 4)
Antibodies from Abcam (GABA A Receptor alpha 4), each with their AbpromiseSM
Browse Abnova for Monoclonal and Polyclonal Antibodies
Search Novus for antibodies for GABRA4

Assays for GABRA4: 
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

5/7 InterPro domains/families (see all 7 ):
 IPR018000 Neurotransmitter_ion_chnl_CS
 IPR006028 GABAA_rcpt
 IPR005434 GABBAa4_rcpt
 IPR006201 Neur_channel
 IPR001390 GABAAa_rcpt


   GeneDecks  GABRA4 for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry P48169

ProtoNet protein and cluster: P48169

4 Blocks protein families:
IPB001390 Gamma-aminobutyric-acid A receptor alpha subunit signature
IPB005434 Gamma-aminobutyric-acid A receptor alpha 4 subunit signature
IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature
IPB006201 Neurotransmitter-gated ion-channel


UniProtKB/Swiss-Prot: GBRA4_HUMAN, P48169
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.)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (GABRA4)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (GABRA4)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000809

              Applied Biosystems Silencer® siRNAs for GABRA4

              Sigma-Aldrich siRNA and siRNA Panels for GABRA4  
                     Sigma-Aldrich shRNA for GABRA4  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for GABRA4
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000809
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000809
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_000809 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_000809

UniProtKB/Swiss-Prot: GBRA4_HUMAN, P48169
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
Induction: The alpha4 beta2 gamma 2L receptor is not repressed by diazepam

Genatlas biochemistry entry for GABRA4:
gamma-aminobutyric acid (GABA) A receptor,ionotropic,alpha 4,subunit,component of a pentameric
receptor mediating inhibitory neurotransmission

6 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Gabra4):

behavior/neurologicalhomeostasis/metabolismnervous systemno phenotypic analysisnormal
touch/vibrissae

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 IEA--
GO:0005216 ion channel activity IEA--
GO:0005230 extracellular ligand-gated ion channel activity IEA--
GO:0005254 chloride channel activity IEA--
GO:0008503 benzodiazepine receptor activity TAS8719416
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 GABRA4
 GABA signaling in brain

   GeneDecks  GABRA4 for the pathways selected above  
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for  GABRA4  (Your Favorite Gene powered by Ingenuity) 
 GABA Receptor Signaling

   GeneDecks  GABRA4 for the pathways selected above  
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1 Kegg Pathway  (Kegg details for GABRA4):
 hsa04080 Neuroactive ligand-receptor interaction

   GeneDecks  GABRA4 for the pathways selected above  
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 Gene Network CentralTM Interacting Genes and Proteins Network for  GABRA4 


5/19 Interacting proteins for GABRA4 (ENSP000002643183) via UniProtKB, MINT, and/or STRING (see all 19 )
InteractantInteraction Details
GeneCardExternal ID(s)
GABRB3ENSP000003724793STRING (score=.829)
GABRB2ENSP000002745473STRING (score=.823)
GABRR1ENSP000003584633STRING (score=.823)
GABRR2ENSP000002296063STRING (score=.822)
GABRPENSP000002652943STRING (score=.82)
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:0006821 chloride transport IEA--
GO:0007214 gamma-aminobutyric acid signaling pathway TAS8719416
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 GABRA4
Sigma-Aldrich Small Molecules for GABRA4:
Antagonist Agonist Allosteric Modulator Inhibitor Ligand

Compounds for GABRA4 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,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (GABRA4)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (GABRA4)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000809

              Sigma-Aldrich siRNA and siRNA Panels for GABRA4  
                     Sigma-Aldrich shRNA for GABRA4  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_000809  

REFSEQ mRNAs for GABRA4 gene: 

NM_000809.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_000809  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000809
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000809
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_000809 

Additional cDNA sequence: 

AF238869.1 AK090780.1 BC035055.1 BC036474.1 BC037926.2 BC042117.1 U30461.1 

1 DOTS entry:

DT.75173889 

24/33 AceView cDNA sequences (see all 33 ):

AK090780 BC037926 NM_000809 BI599812 BC042117 U30461 AL157669 BG204759 
BG623491 BI545886 AL705643 CD013893 BX493490 BF310474 C15082 BG706756 
BI545660 BC035055 BC036474 AV728959 BI598814 CD013892 BG201159 AF238869 

highest scoring ESTs for GABRA4:

AK090780 BC035055 BG699585 BI545886 BI598814 BI599812 U30461 AF238869 AL157669 AL705643 

Unigene Cluster for GABRA4:

Gamma-aminobutyric acid (GABA) A receptor, alpha 4
Hs.248112  [show with all ESTs]
Unigene Representative Sequence: NM_000809


GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for GABRA4

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1:                                -                                             
SP2:                    -           -                                             
SP3:                    -           -                             -               
SP4:                                                                              

About this scheme

ECgene alternative splicing isoforms for GABRA4

1 Ensembl transcript including schematic representation:
ENST00000264318  
(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

GABRA4 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for GABRA4

1 / 2 / 3

4 probe-sets matching GABRA4 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

233437_at2, 3 U133-B 1 1.00 1.00 -- -- AF238869 0.60 1.00 0.82 1

208463_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000809 0.60 1.00 0.82 1

233437_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

208463_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
About this table
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: AGAAAAAGAA

SOURCE GeneReport for Unigene cluster: Hs.248112
(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 GABRA4 gene from 5/8 species (see all 8 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
GABRA41   -- gamma-aminobutyric acid (GABA) A receptor, alpha 4 91.27(n)
94.23(a)
482132  XM_539251.2  XP_539251.2 
chimpanzee
(Pan troglodytes)
GABRA41   -- gamma-aminobutyric acid (GABA) A receptor, alpha 4 99.58(n)
100(a)
471392  XM_526774.2  XP_526774.2 
cow
(Bos taurus)
GABRA41   -- gamma-aminobutyric acid (GABA) A receptor, alpha 4 92.06(n)
93.86(a)
282238  NM_174543.2  NP_776968.1 
rat
(Rattus norvegicus)
Gabra41   -- gamma-aminobutyric acid (GABA) A receptor, alpha 4 86.45(n)
89.84(a)
140675  NM_080587.1  NP_542154.1 
mouse
(Mus musculus)
Gabra41, 5 55
gamma-aminobutyric acid (GABA) A receptor, subunit more5
gamma-aminobutyric acid (GABA-A) receptor, subunit more1
87.3(n)1
90.93(a)1
143971  NM_010251.21  NP_034381.11 
 AF0903735  AI8521205  (see all 14)
About this table        Species with no ortholog for GABRA4

ENSEMBL Gene Tree for GABRA4
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for GABRA4 gene
GABRA62  GABRA32  

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


10/391 NCBI SNPs in GABRA4 are shown (see all 391 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 202)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 4 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs9533801,2
A,C,F,H,O46620570(-) AGGAAT/CGGAAT 1 -- ut3114Minor allele frequency- C:0.24NS MN NA EU EA WA 956
rs76603361,2
A,C,F,H46624425(+) GGGAAC/GATATT 1 -- ut31 trp38Minor allele frequency- G:0.45EA NA EU WA 622
rs92912981,2
A,C,F,H46621594(+) AGAGAA/GTATTA 1 -- ut31 ese37Minor allele frequency- G:0.47NA EU EA WA 552
rs92912971,2
A,C,F,H46617865(+) GGATAA/CCATTT 1 -- ut314Minor allele frequency- C:0.24EU EA WA 388
rs37626111,2
A,C,F,H46692045(+) AAATAG/ACGGAA 1 -- ng3112Minor allele frequency- A:0.13EA EU WA NA 2476
rs13981741,2
A,C,F,H46621902(-) CTTAAA/CAGTGA 1 -- ut31 ese35Minor allele frequency- C:0.48MN EU EA WA 602
rs100335001,2
A,C,F,H46617445(+) ACTCAC/TACCAA 1 -- ut313Minor allele frequency- T:0.25EU EA 282
rs92912961,2
A,C,F,H46617707(+) TTCAAA/GTACAT 1 -- ut317Minor allele frequency- G:0.25NA EU EA WA 544
rs131517591,2
A,C,F,H46690410(+) TTCTCG/TCTCAG 1 -- ng314Minor allele frequency- T:0.33EU EA WA 412
rs15121391,2
A,C,F,O46621534(-) CTTTGC/AACCAC 1 -- ut31 ese38Minor allele frequency- A:0.47MN NA EA 688
About this table

HapMap Linkage Disequilibrium images for GABRA4 (up to first 250kb)

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

OMIM: 137141

2 Novoseek disease relationships for GABRA4 gene

Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
status epilepticus 57.49 4 16091474 (1), 16901909 (1)
epilepsy 29.15 5 16091474 (1), 16901909 (1)
About this table

Genetic Association Database: GABRA4
Human Genome Epidemiology Navigator: GABRA4 (7 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

10/26 PubMed articles for GABRA4 gene (see all 26 ):
(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: 2557 HGNC: 4078 AceView: GABRA4 Ensembl:ENSG00000109158 euGenes: HUgn2557
ECgene: GABRA4 H-InvDB: GABRA4
(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
Protein Spotlighthttp://www.expasy.org/spotlight/back_issues/sptlt056.shtml
(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 GABRA4:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



  Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
  Invitrogen Antibodies  Invitrogen Assays
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 Predesigned and custom siRNAs for GABRA4 Browse antibodies at Sigma-Aldrich
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for GABRA4 Small molecules for GABRA4
 "Your Favorite Gene" Pathwaysfeedback


  
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 Drugs for GABRA4
 Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
 Search Novus for antibodies for GABRA4

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