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GABRD Gene

protein-coding   GIFtS: 68

GC01P001913
gamma-aminobutyric acid (GABA) A receptor, delta
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
MGC45284 2
OTTHUMP00000038578 2
Descriptions
GABA(A) receptor subunit delta 2, 3
GABA-A receptor, delta polypeptide 2
gamma-aminobutyric acid (GABA) A receptor, delta 2
gamma-aminobutyric acid A receptor, delta 1
External Ids
HGNC: 40841
Entrez Gene: 25632
UniProtKB: O147643
Ensembl: ENSG000001877307
Search outside databases for aliases for GABRD gene

Previous GC identifers: GC01P001512 GC01P9L0120 GC00M9Y0062

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for GABRD:
Gamma-aminobutyric acid (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. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha,
beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been
associated with susceptibility to generalized epilepsy with febrile seizures, type 5.
Alternatively spliced transcript variants have been described for this gene, but their biological
validity has not been determined. [provided by RefSeq]

UniProtKB/Swiss-Prot: GBRD_HUMAN, O14764
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 GABRD

(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 GABRD gene  

Entrez Gene cytogenetic band: 1p|1p36.3   Ensembl cytogenetic band:  1p36.33   HGNC cytogenetic band: 1p36.3

GABRD 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 1         GeneLoc Exon Structure

GeneLoc location for GC01P001913:     (about GC identifiers)

Start:
1,940,703 bp from pter
End:
1,952,050 bp from pter
Size:
11,348 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000001.9  NT_004350.18  
(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: GBRD_HUMAN, O14764 (See protein sequence)
Recommended Name: Gamma-aminobutyric acid receptor subunit delta precursor  
Size: 452 amino acids; 50708 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: Q8N4N9

REFSEQ proteins: NP_000806.2  

ENSEMBL proteins: 
ENSP00000367848 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Millipore Purified and/or Recombinant GABRD 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 (GABA A Receptor delta)
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:0005887 integral to plasma membrane TAS2176788
GO:0030054 cell junction IEA--
GO:0045202 synapse IEA--
GO:0045211 postsynaptic membrane IEA--
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Antibodies for GABRD: 
Invitrogen Antibodies for GABRD
Millipore Mono- and Polyclonal Antibodies for the study of GABRD
Sigma-Aldrich Antibodies for GABRD
R&D Systems Antibodies for GABRD (GABA-A-R delta)
Antibodies from Abcam (GABA A Receptor delta), each with their AbpromiseSM
Browse Abnova for Monoclonal and Polyclonal Antibodies
Search Novus for antibodies for GABRD

Assays for GABRD: 
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
 IPR008098 GABAAd_rcpt
 IPR006029 Neu_channel_TM


   GeneDecks  GABRD for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry O14764

ProtoNet protein and cluster: O14764

3 Blocks protein families:
IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature
IPB006201 Neurotransmitter-gated ion-channel
IPB008098 Gamma-aminobutyric-acid A receptor delta subunit signature


UniProtKB/Swiss-Prot: GBRD_HUMAN, O14764
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 (GABRD)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (GABRD)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000815

              Applied Biosystems Silencer® siRNAs for GABRD

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

Clones:Invitrogen Clones for GABRD
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000815
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000815
                                 untagged cDNA clone in CMV expression vector: NM_000815 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_000815

UniProtKB/Swiss-Prot: GBRD_HUMAN, O14764
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 GABRD:
gamma-aminobutyric acid (GABA) A receptor,ionotropic,delta,subunit,component of a pentameric
receptor mediating inhibitory neurotransmission

6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gabrd):

behavior/neurologicalhearing/vestibular/earhomeostasis/metabolismlethality-postnatalnervous system
reproductive system

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 TAS2176788
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 GABRD
 GABA signaling in brain

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

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

   GeneDecks  GABRD for the pathways selected above  
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5/26 Interacting proteins for GABRD (ENSP000003678483 O147642) via UniProtKB, MINT, and/or STRING (see all 26 )
InteractantInteraction Details
GeneCardExternal ID(s)
UBQLN1Q9UMX02MINT-66488
UBQLN4Q9NRR52MINT-2859100
MAXENSP000002841653STRING (score=.899)
TERTENSP000003095723STRING (score=.899)
GABRA1ENSP000000238973STRING (score=.825)
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3 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006811 ion transport IEA--
GO:0007165 signal transduction TAS2176788
GO:0007268 synaptic transmission IEA--
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(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)
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Enzo Life Sciences drugs & compounds for GABRD
Browse Small Molecules at Sigma-Aldrich

Compounds for GABRD 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 (GABRD)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (GABRD)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000815

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

Applied Biosystems Silencer® siRNAs: 

NM_000815  

REFSEQ mRNAs for GABRD gene: 

NM_000815.4   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_000815  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000815
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000815
                                 untagged cDNA clone in CMV expression vector: NM_000815 

Additional cDNA sequence: 

AF016917.1 AK290861.1 BC033801.1 

2 DOTS entries:

DT.95160910  DT.453178 

24/35 AceView cDNA sequences (see all 35 ):

NM_000815 BQ951978 BG702804 R88965 BI757807 BM545512 AW594540 AA984687 
BI758571 AF016917 BI757337 BI822807 BM547796 AU122311 AW004058 BX279745 
BI829118 BI824761 AI828107 BG037021 BC033801 BI490030 AW291520 BQ067322 

highest scoring ESTs for GABRD:

AF016917 AI936907 AI445994 AI828107 AU147918 AW004058 AW291520 AW594540 BC033801 BI822807 

Unigene Cluster for GABRD:

Gamma-aminobutyric acid (GABA) A receptor, delta
Hs.113882  [show with all ESTs]
Unigene Representative Sequence: NM_000815


GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:
ENST00000378585  
(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 )
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GABRD expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for GABRD

1 / 2 / 3

6 probe-sets matching GABRD gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
35098_at2, 3 U95-A 1 1.00 1.00 0.97 0.90 AF016917 1.00 1.00 1.00 1
91805_at2, 3 U95-E 1 1.00 1.00 0.97 1.10 AI936907 1.00 1.00 1.00 1

230255_at2, 3 U133-B 1 1.00 1.00 -- -- AI936907 1.00 1.00 1.00 1

208457_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000815 0.60 1.00 0.82 1

230255_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

208457_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  GABRD for binary patterns associated with the probe-sets selected above  
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About this table    
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: AAATAAAGCC

SOURCE GeneReport for Unigene cluster: Hs.113882

Expression variation in blood from EXPOLDB for GABRD

(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 GABRD gene from 5/9 species (see all 9 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
GABRD1   -- gamma-aminobutyric acid (GABA) A receptor, delta 87.15(n)
92.06(a)
489609  XM_852752.1  XP_857845.1 
chimpanzee
(Pan troglodytes)
GABRD1   -- gamma-aminobutyric acid (GABA) A receptor, delta 98.91(n)
100(a)
747186  XM_001156161.1  XP_001156161.1 
cow
(Bos taurus)
GABRD1   -- gamma-aminobutyric acid (GABA) A receptor, delta 89.54(n)
93.5(a)
508711  XM_585530.3  XP_585530.3 
rat
(Rattus norvegicus)
Gabrd1   -- gamma-aminobutyric acid (GABA) A receptor, delta 86.56(n)
93.1(a)
29689  NM_017289.1  NP_058985.1 
mouse
(Mus musculus)
Gabrd1, 5 45
gamma-aminobutyric acid (GABA) A receptor, subunit more5
gamma-aminobutyric acid (GABA-A) receptor, subunit more1
85.67(n)1
92.43(a)1
144031  NM_008072.11  NP_032098.11 
 AF3265465  AF3265645  (see all 22)
About this table        Species with no ortholog for GABRD

ENSEMBL Gene Tree for GABRD
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
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Paralogs for GABRD gene
GABRP2  GABRQ2  

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


10/63 NCBI SNPs in GABRD are shown (see all 63 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 15)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 1 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
--
rs31218181,2
A,C1939404(+) AGGCCG/TAGGCG 1 -- ng510--------
--
rs168246271,2
F1952493(-) TCTGTT/CCCCAA 1 -- ng313Minor allele frequency- C:0.26NA 142
--
rs74164021,2
H1946287(+) AGATCT/CCCTGG 1 P/S mis1 ese34Minor allele frequency- C:0.00EU EA WA 404
rs22291101,2
C,F1946897(+) CTGGGT/CCTGGA 1 G/G syn1 ese32Minor allele frequency- C:0.42MN EA 1456
rs31218191,2
A,C,F1941687(+) CATTCG/AGGATC 1 -- int14Minor allele frequency- A:0.19NA EA 362
--
rs31283221,2
A,C1944296(+) ACCCCA/GCTGCT 1 -- int10--------
--
rs37952791,2
C,F1948981(-) CCCCTA/GCCCGC 1 -- int11Minor allele frequency- G:0.04EA 1502
--
rs31283181,2
A,C1942642(+) CAACTA/CAGCCC 1 -- int10--------
rs23768051,2
C,F1946222(-) GCCACT/CGGTCA 1 -- int11Minor allele frequency- C:0.28EA 1490
--
rs31283231,2
C1944940(+) TCCCGA/GCCCCT 1 -- int10--------
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HapMap Linkage Disequilibrium images for GABRD (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: 137163

UniProtKB/Swiss-Prot: GBRD_HUMAN, O14764
  • Defects in GABRD are the cause of susceptibility to generalized epilepsy with febrile
    seizures plus type 5 (GEFS+5) [MIM:604233]. Generalized epilepsy with febrile seizures-plus refers
    to a rare familial condition with incomplete penetrance and large intrafamilial variability.
    Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety
    of afebrile seizure types. GEFS+ is a disease combining febrile seizures, generalized seizures
    often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree
    of severity
  • Human Gene Mutation Database: GABRD
    Genetic Association Database: GABRD
    Human Genome Epidemiology Navigator: GABRD (2 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

    10/18 PubMed articles for GABRD gene (see all 18 ):
    (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: 2563 HGNC: 4084 AceView: GABRD Ensembl:ENSG00000187730 euGenes: HUgn2563
    ECgene: GABRD H-InvDB: GABRD
    (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 GABRD:
     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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      Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for GABRD-related products

     Millipore Custom Antibody & Bulk Services
     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


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


      
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     Recombinant & Natural Proteins  

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     Recombinant Proteins
    (GABA A Receptor delta)
     Antibodies (GABA A Receptor delta)
     Search OriGene for GABRD
     Tocris compounds for GABRD




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

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