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GABRP Gene

protein-coding   GIFtS: 65

GC05P170143
gamma-aminobutyric acid (GABA) A receptor, pi
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
MGC126386 2
MGC126387 2
OTTHUMP00000161000 2
Descriptions
GABA(A) receptor subunit pi 3
gamma-aminobutyric acid (GABA) A receptor, pi 2
gamma-aminobutyric acid A receptor, pi 1
External Ids
HGNC: 40891
Entrez Gene: 25682
UniProtKB: O005913
Ensembl: ENSG000000947557
Search outside databases for aliases for GABRP gene

Previous GC identifers: GC05P170445 GC05P170913 GC05P170146 GC05P170191

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

EntrezGene summary for GABRP:
The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the
fastest inhibitory synaptic transmission in the central nervous system. The subunit encoded by
this gene is expressed in several non-neuronal tissues including the uterus and ovaries. This
subunit can assemble with known GABA A receptor subunits, and the presence of this subunit alters
the sensitivity of recombinant receptors to modulatory agents such as pregnanolone. [provided by
RefSeq]

UniProtKB/Swiss-Prot: GBRP_HUMAN, O00591
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. In the uterus, the function of the receptor appears to be related to tissue
contractility. The binding of this pI subunit with other GABA(A) receptor subunits alters the
sensitivity of recombinant receptors to modulatory agents such as pregnanolone

Gene Wiki entry for GABRP

(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 GABRP gene  

Entrez Gene cytogenetic band: 5q33-q34   Ensembl cytogenetic band:  5q35.1   HGNC cytogenetic band: 5q33-q34

GABRP 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 5         GeneLoc Exon Structure

GeneLoc location for GC05P170143:     (about GC identifiers)

Start:
170,142,275 bp from pter
End:
170,173,629 bp from pter
Size:
31,355 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000005.8  NT_023133.12  
(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: GBRP_HUMAN, O00591 (See protein sequence)
Recommended Name: Gamma-aminobutyric acid receptor subunit pi precursor  
Size: 440 amino acids; 50640 Da
Subunit: Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma,
delta, and epsilon. A sixth class of subunit: Rho form homomeric GABA receptors that do not appear
to coexist with GABA(A) receptor subunits but with GABA(C) receptor subunits. Subunit Pi can also
bind this complex
Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane
protein. Cell membrane; Multi-pass membrane protein
Secondary accessions: Q32MJ1

REFSEQ proteins: NP_055026.1  

ENSEMBL proteins: 
ENSP00000377423 ENSP00000265294 


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 pi)
Browse Abnova for Human Recombinant Proteins
                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:0016021 integral to membrane IEA--
GO:0030054 cell junction IEA--
GO:0045202 synapse IEA--
GO:0045211 postsynaptic membrane IEA--
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Antibodies for GABRP: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for GABRP
Browse R&D Systems for Antibodies
Antibodies from Abcam (GABA A receptor pi), each with their AbpromiseSM
Browse Abnova for Monoclonal and Polyclonal Antibodies
Search Novus for antibodies for GABRP

Assays for GABRP: 
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
 IPR008100 GABAAp_rcpt
 IPR006201 Neur_channel
 IPR006029 Neu_channel_TM


   GeneDecks  GABRP for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry O00591

ProtoNet protein and cluster: O00591

3 Blocks protein families:
IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature
IPB006201 Neurotransmitter-gated ion-channel
IPB008100 Gamma-aminobutyric-acid A receptor pi subunit signature


UniProtKB/Swiss-Prot: GBRP_HUMAN, O00591
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 (GABRP)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (GABRP)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_014211

              Applied Biosystems Silencer® siRNAs for GABRP

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

Clones:Browse Clone Ranger at Invitrogen for clones
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_014211
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_014211
                                 untagged cDNA clone in CMV expression vector: NM_014211 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_014211

UniProtKB/Swiss-Prot: GBRP_HUMAN, O00591
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. In the uterus, the function of the receptor appears to be related to tissue
contractility. The binding of this pI subunit with other GABA(A) receptor subunits alters the
sensitivity of recombinant receptors to modulatory agents such as pregnanolone

1 MGI mutant phenotype (inferred from 1 allele(MGI details for Gabrp):

normal

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 TAS9182563
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.)
About This Section


1 Millipore Pathway for GABRP
 GABA signaling in brain

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

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

   GeneDecks  GABRP for the pathways selected above  
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5/17 Interacting proteins for GABRP (ENSP000002652943) via UniProtKB, MINT, and/or STRING (see all 17 )
InteractantInteraction Details
GeneCardExternal ID(s)
GABRA1ENSP000000238973STRING (score=.825)
GABRA6ENSP000002745453STRING (score=.824)
GABRG3ENSP000003319123STRING (score=.821)
GABRA2ENSP000003488973STRING (score=.82)
GABRA4ENSP000002643183STRING (score=.82)
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1 Gene Ontology (GO) biological process term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006811 ion transport 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 GABRP
Browse Small Molecules at Sigma-Aldrich

Compounds for GABRP 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 (GABRP)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (GABRP)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_014211

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

Applied Biosystems Silencer® siRNAs: 

NM_014211  

REFSEQ mRNAs for GABRP gene: 

NM_014211.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_014211  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_014211
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_014211
                                 untagged cDNA clone in CMV expression vector: NM_014211 

Additional cDNA sequence: 

AK055205.1 AK292901.1 AK296805.1 AK300303.1 BC074810.2 BC074865.2 BC109105.1 BC109106.1 
CR599634.1 U95367.1 

7 DOTS entries:

DT.452502  DT.102831011  DT.102831012  DT.120831620  DT.100034267  DT.120831628  DT.75118728 

24/96 AceView cDNA sequences (see all 96 ):

CR599634 BC074865 AI560906 AL708685 AI075074 AI912873 AI619885 AW439792 
AW169065 CA312543 AI446810 AI334802 AW438575 BC074810 BX509618 AU130953 
AI521015 BU679207 AW959225 U95367 CB243579 CB047841 AA120821 CD696885 

highest scoring ESTs for GABRP:

U95367 AA101225 AA120822 AA294978 AA298878 AA559040 AI075074 AI334802 AI446810 AI521015 

Unigene Cluster for GABRP:

Gamma-aminobutyric acid (GABA) A receptor, pi
Hs.26225  [show with all ESTs]
Unigene Representative Sequence: NM_014211


GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for GABRP

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1:                                                                              
SP2:                                                                              
SP3:                                                              -               

About this scheme

ECgene alternative splicing isoforms for GABRP

2 Ensembl transcripts including schematic representations:
ENST00000393840  ENST00000265294  
(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

GABRP expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for GABRP

1 / 2 / 3

3 probe-sets matching GABRP gene


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

40339_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 U95367 1.00 1.00 1.00 1

205044_at2, 3 U133-A 1 1.00 1.00 -- -- NM_014211 0.60 1.00 0.82 1

205044_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: AGCAGGAGCG

SOURCE GeneReport for Unigene cluster: Hs.26225

Expression variation in blood from EXPOLDB for GABRP

UniProtKB/Swiss-Prot: GBRP_HUMAN, O00591
Tissue specificity: Most abundant in the uterus, also expressed in lung, thymus and prostate

(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 GABRP gene from 5/7 species (see all 7 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
GABRP1   -- gamma-aminobutyric acid (GABA) A receptor, pi 91.44(n)
95(a)
489124  XM_546242.2  XP_546242.2 
chimpanzee
(Pan troglodytes)
GABRP1   -- gamma-aminobutyric acid (GABA) A receptor, pi 99.17(n)
99.77(a)
471736  XM_001151111.1  XP_001151111.1 
cow
(Bos taurus)
GABRP1   -- gamma-aminobutyric acid (GABA) A receptor, pi 91.14(n)
94.09(a)
517459  NM_001015618.1  NP_001015618.1 
rat
(Rattus norvegicus)
Gabrp1   -- gamma-aminobutyric acid (GABA-A) receptor, pi 89.02(n)
92.95(a)
81658  NM_031029.1  NP_112291.1 
mouse
(Mus musculus)
Gabrp1, 5 115
gamma-aminobutyric acid (GABA) A receptor, pi5
gamma-aminobutyric acid (GABA-A) receptor, pi1
88.86(n)1
92.73(a)1
2166431  NM_146017.31  NP_666129.11 
 AK0289465  AK1605775  (see all 11)
About this table        Species with no ortholog for GABRP

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

Paralogs for GABRP gene
GABRD2  GABRQ2  

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


10/236 NCBI SNPs in GABRP are shown (see all 236 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 115)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 5 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs18954091,2
A,C,F,H,O170173827(+) TGACAC/TAGCCA 1 -- ng317Minor allele frequency- T:0.14NA EU EA WA 506
rs18954101,2
A,C,F,H,O170173884(+) AACAGT/CTGAGC 1 -- ng3111Minor allele frequency- C:0.13EU EA WA NA 980
rs100722121,2
A,C,F,H170141849(+) AACTTA/GTCCAG 1 -- ng512Minor allele frequency- G:0.26EA 178
rs10633101,2
C,F,H,O170171690(+) AAGTTC/AAAGTT 1 L/F mis114Minor allele frequency- A:0.30MN NA EA EU WA 1314
rs77223941,2
A,C,F,H170142820(+) GGGATG/ATGAAA 1 -- ng516Minor allele frequency- A:0.37EU EA NA 436
rs77169341,2
A,C,F,H170141673(+) TACACC/TATCAG 1 -- ng5112Minor allele frequency- N:0.00EU EA WA NA 1048
rs111346541,2
A,C,F,H170173001(+) CTGCTC/ATGAGT 1 -- ut31 ese34Minor allele frequency- A:0.12EU EA WA 412
rs9297621,2
A,C,F,H170143398(+) TTGCCC/TGGAAG 1 -- ut51 ese318Minor allele frequency- T:0.47NA EA MN EU WA 1818
rs9297611,2
A,C,F,H170143339(+) ACATAC/TGAGGG 1 -- ut519Minor allele frequency- T:0.15MN EU EA WA 1008
rs48680271,2
A,C,F,H170142561(+) CTGTCC/GAAGCA 1 -- ng514Minor allele frequency- G:0.31EU EA WA 416
About this table

HapMap Linkage Disequilibrium images for GABRP (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: 602729

Genetic Association Database: GABRP
Human Genome Epidemiology Navigator: GABRP (5 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

10/17 PubMed articles for GABRP gene (see all 17 ):
(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: 2568 HGNC: 4089 AceView: GABRP Ensembl:ENSG00000094755 euGenes: HUgn2568
ECgene: GABRP H-InvDB: GABRP
(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
ATLAS Chromosomes in Cancer entry for GABRP Genetics and Cytogenetics in Oncology and Haematology
(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 GABRP:
 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 GABRP-related products

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 Millipore Preclinical / Clinical Development Services
 Millipore Immunoassay Services
 Millipore Target Screening & Profiling Services


 Predesigned and custom siRNAs for GABRP Antibodies for GABRP
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for GABRP Browse small molecules at Sigma-Aldrich
 "Your Favorite Gene" Pathwaysfeedback


  
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 Recombinant Proteins
(GABA A receptor pi)
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 Tocris compounds for GABRP




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

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