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GAD1 Gene

protein-coding   GIFtS: 66

GC02P171381
glutamate decarboxylase 1 (brain, 67kDa)
(Previous names: glutamate decarboxylase 1 (brain, 67kD) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: GAD)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
EC 4.1.1.15 3
FLJ45882 2
GAD 2, 3
GAD-67 3
GAD67 3
OTTHUMP00000041055 2
SCP 2, 5
Descriptions
67 kDa glutamic acid decarboxylase 3
Glutamate decarboxylase 67 kDa isoform 3
glutamate decarboxylase 1 2
glutamate decarboxylase 1 (brain, 67kD) 1, 2
glutamate decarboxylase 1 (brain, 67kDa) 2
External Ids
HGNC: 40921
Entrez Gene: 25712
UniProtKB: Q992593
Ensembl: ENSG000001286837
Search outside databases for aliases for GAD1 gene

Previous GC identifers: GC02P169724 GC02P170214 GC02P171637 GC02P171875 GC02P171498

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

EntrezGene summary for GAD1:
This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major
autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the
production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has
been identified in the human pancreas since it has been identified as an autoantigen and an
autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the
stiff man syndrome. Deficiency in this enzyme has been shown to lead to pyridoxine dependency with
seizures. Alternative splicing of this gene results in two products, the predominant 67-kD form
and a less-frequent 25-kD form. [provided by RefSeq]

UniProtKB/Swiss-Prot: DCE1_HUMAN, Q99259
Function: Catalyzes the production of GABA

Gene Wiki entry for GAD1

(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 GAD1 gene  

Entrez Gene cytogenetic band: 2q31   Ensembl cytogenetic band:  2q31.1   HGNC cytogenetic band: 2q31

GAD1 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 2         GeneLoc Exon Structure

GeneLoc location for GC02P171381:     (about GC identifiers)

Start:
171,381,446 bp from pter
End:
171,425,907 bp from pter
Size:
44,462 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000002.10  NT_005403.16  
(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: DCE1_HUMAN, Q99259 (See protein sequence)
Recommended Name: Glutamate decarboxylase 1  
Size: 594 amino acids; 66897 Da
Cofactor: Pyridoxal phosphate
Subunit: Homodimer
PDB structures from and Proteopedia :
2OKJ (3D)    
Secondary accessions: Q9BU91 Q9UHH4
Alternative splicing: 3 isoforms:  Q99259-1   Q99259-2   Q99259-3   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_000808.2  NP_038473.2  


    ENSEMBL proteins: 
    ENSP00000350928 ENSP00000364422 ENSP00000364421 ENSP00000341167 


    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 (GAD67, GAD65 + GAD67)
    Human Recombinant Proteins from Abnova (GAD1)
                  OriGene Purified Recombinant Human Protein: GAD1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622 intracellular IDA10671565
    GO:0012506 vesicle membrane NAS10671565
    About this table

    Antibodies for GAD1: 
    Browse Antibodies Central at Invitrogen
    Millipore Mono- and Polyclonal Antibodies for the study of GAD1
    Sigma-Aldrich Antibodies for GAD1
    R&D Systems Antibodies for GAD1 (GAD1/GAD67)
    Antibodies from Abcam (GAD67, GAD65 + GAD67), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (GAD1)
    Novus Biologicals Antibodies for GAD1

    Assays for GAD1: 
    Browse Invitrogen for biochemical assays
    Millipore Kits and Assays for the Analysis of GAD1
    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

    2 InterPro domains/families:
     IPR002129 PyrdxlP-dep_de-COase
     IPR015421 PyrdxlP-dep_Trfase_major_sub1


       GeneDecks  GAD1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q99259

    ProtoNet protein and cluster: Q99259

    UniProtKB/Swiss-Prot: DCE1_HUMAN, Q99259
    Similarity: Belongs to the group II decarboxylase 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 (GAD1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (GAD1)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_013445

                  Applied Biosystems Silencer® siRNAs for GAD1

                  Sigma-Aldrich siRNA and siRNA Panels for GAD1  
                         Sigma-Aldrich shRNA for GAD1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for GAD1
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000817
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000817
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_000817 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_000817

    UniProtKB/Swiss-Prot: DCE1_HUMAN, Q99259
    Function: Catalyzes the production of GABA
    Catalytic activity: L-glutamate = 4-aminobutanoate + CO(2)
    Enzyme Number (IUBMB): EC 4.1.1.15 

    Genatlas biochemistry entry for GAD1:
    glutamate decarboxylase 1,brain,67kDa,extramitochondrial,GABA formation,autoantigen in stiff man
    syndrome,in women affected by breast cancer

    14 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Gad1):

    behavior/neurologicalcraniofacialdigestive/alimentaryembryogenesisendocrine/exocrine gland
    growth/sizehomeostasis/metabolismlethality-prenatal/perinatallife span-post-weaning/agingnervous system
    no phenotypic analysisnormalrespiratory systemskeleton

    4 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004351 glutamate decarboxylase activity IDA10671565
    GO:0005515 protein binding IPI10671565
    GO:0016829 lyase activity IEA--
    GO:0030170 pyridoxal phosphate 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

    2 Invitrogen iPath™ Online BioAtlas - Pathways for GAD1 (Maps provided by GeneGo):
     Beta-alanine metabolism
     Histidine, proline, glutamate and glutamine metabolism

       GeneDecks  GAD1 for the pathways selected above  
    About GeneDecksing

    3 Millipore Pathways for GAD1
     Beta-alanine metabolism
     GABA signaling in brain
     Glutamic acid signaling

       GeneDecks  GAD1 for the pathways selected above  
    About GeneDecksing

    5/7 Sigma-Aldrich "Your Favorite Gene" Pathways for  GAD1  (Your Favorite Gene powered by Ingenuity) (see all 7
     &beta
     Alanine and Aspartate Metabolism
     Glutamate Metabolism
     Type I Diabetes Mellitus Signaling
     Taurine and Hypotaurine Metabolism

       GeneDecks  GAD1 for the pathways selected above  
    About GeneDecksing

    5/6 Kegg Pathways  (Kegg details for GAD1) (see all 6 ):
     hsa00251 Glutamate metabolism
     hsa00252 Alanine and aspartate metabolism
     hsa00410 beta-Alanine metabolism
     hsa00430 Taurine and hypotaurine metabolism
     hsa00650 Butanoate metabolism

       GeneDecks  GAD1 for the pathways selected above  
    About GeneDecksing

    5/83 Interacting proteins for GAD1 (Q992591 ENSP000003509283) via UniProtKB, MINT, and/or STRING (see all 83 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005191EBI-743184, EBI-375543
    FYNP062411EBI-743184, EBI-515315
    GRB2P629931EBI-743184, EBI-401755
    NCK1P163331EBI-743184, EBI-389883
    ABATENSP000002682513STRING (score=.982)
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006540 glutamate decarboxylation to succinate TAS1549570
    GO:0007268 synaptic transmission TAS8954991
    GO:0018352 protein-pyridoxal-5-phosphate linkage TAS10671565
    GO:0019752 carboxylic acid metabolic process IEA--
    GO:0042136 neurotransmitter biosynthetic process 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

    Browse drugs & compounds from Enzo Life Sciences
    Sigma-Aldrich Small Molecules for GAD1:
    Inhibitor

    Browse Tocris compounds for GAD1
    10/32 Novoseek chemical compound relationships for GAD1 gene (see all 32 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    c-peptide 71.41 12 9781622 (1), 9838990 (1), 12017227 (1), 11372396 (1) (see all 10)
    succinic semialdehyde 63.88 5 18846220 (1), 15642443 (1), 8920949 (1), 7584821 (1) (see all 5)
    cysteine sulfinic acid 53.12 4 8912862 (1), 15070923 (1), 18047830 (1)
    tyrosine 42.05 38 9670839 (2), 9703171 (1), 11095106 (1), 11113579 (1) (see all 36)
    atpa 32.57 2 11602227 (1), 15450782 (1)
    quinolinic acid 27.32 2 9171158 (2)
    glucose 18.31 21 1464667 (3), 11980365 (2), 8504767 (1), 10663218 (1) (see all 12)
    oligonucleotide 5.54 2 8744244 (1)
    potassium 4.99 8 16344514 (1), 16870397 (1), 17918010 (1), 19356697 (1) (see all 7)
    hydrogen 2.09 1 15932974 (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 (GAD1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (GAD1)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_013445

                  Sigma-Aldrich siRNA and siRNA Panels for GAD1  
                         Sigma-Aldrich shRNA for GAD1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_000817  NM_013445  

    REFSEQ mRNAs for GAD1 gene (2 alternative transcripts): 

    NM_000817.2   NM_013445.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000817  NM_013445  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000817
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000817
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_000817 

    Additional cDNA sequence: 

    AF178853.2 AK123534.1 AK127781.1 AK292582.1 AK307460.1 BC002815.2 BC026349.1 BC036552.1 
    BC037780.2 L16888.1 M55574.1 M70434.1 M70435.1 M81883.1 S61897.1 S61898.1 
    Z22750.1 

    20 DOTS entries:

    DT.97795578  DT.315676  DT.91772737  DT.121034970  DT.315677  DT.95295417  DT.101979988  DT.121034960 
    DT.95250497  DT.121034934  DT.101956985  DT.121034931  DT.121034969  DT.95255621  DT.121034936  DT.121034946 
    DT.92421576  DT.95366425  DT.99940654  DT.95219160 

    24/92 AceView cDNA sequences (see all 92 ):

    AA211056 F09215 F11556 AI391572 F06039 BU730934 BM662447 BG427770 
    AI087804 F03699 BC002815 CD013939 AI362721 BC036552 BM708589 N50036 
    NM_000817 AI955485 AA774161 AA885472 N48810 T28811 AA322463 BI599082 

    highest scoring ESTs for GAD1:

    M81883 AA018457 AA018504 AA211056 AA774161 AA885472 AA890623 AI087804 AI362721 AI459724 

    Unigene Cluster for GAD1:

    Glutamate decarboxylase 1 (brain, 67kDa)
    Hs.420036  [show with all ESTs]
    Unigene Representative Sequence: BC036552


    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for GAD1 (see all 13 )

    ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^
    SP1:                                -     -     -     -                       -                                   -     -           -                           
    SP2:                                                                          -                                   -     -           -                           
    SP3:                                                                          -                                   -     -     -     -                           
    SP4:                                -     -     -     -                       -                                                                                 
    SP5:                                                                                                                                -                           

    ExUns: 16 ^ 17a · 17b · 17c ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22a · 22b · 22c
    SP1:  -     -                 -                                             
    SP2:        -                 -                                             
    SP3:  -     -                 -                                             
    SP4:                                                                        
    SP5:  -     -                                                               

    About this scheme

    ECgene alternative splicing isoforms for GAD1

    4 Ensembl transcripts including schematic representations:
    ENST00000358196  ENST00000375273  ENST00000375272  ENST00000344257  
    (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

    GAD1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for GAD1

    1 / 2 / 3

    8 probe-sets matching GAD1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    37183_at2, 3 U95-A 1 1.00 1.00 0.98 1.00 M81883 1.00 1.00 1.00 1
    84447_at2, 3 U95-E 1 1.00 1.00 0.91 1.02 AA890623 0.80 1.00 0.91 1

    206669_at2, 3 U133-A 1 1.00 1.00 -- -- NM_013445 0.60 1.00 0.82 1

    206670_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_013445 0.60 1.00 0.82 1

    205278_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000817 0.60 1.00 0.82 1

    206669_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    206670_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    205278_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  GAD1 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: GAGAATTTGA

    SOURCE GeneReport for Unigene cluster: Hs.420036

    Expression variation in blood from EXPOLDB for GAD1

    UniProtKB/Swiss-Prot: DCE1_HUMAN, Q99259
    Tissue specificity: Isoform 3 is expressed in pancreatic islets, testis, adrenal cortex, and
    perhaps other endocrine tissues, but not in brain

    (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 GAD1 gene from 5/16 species (see all 16 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    GAD11   -- glutamate decarboxylase 1 (brain, 67kDa) 93.72(n)
    97.98(a)
    478794  XM_535958.2  XP_535958.2 
    chimpanzee
    (Pan troglodytes)
    GAD11   -- glutamate decarboxylase 1 (brain, 67kDa) 99.44(n)
    99.49(a)
    468557  NM_001034113.1  NP_001029285.1 
    cow
    (Bos taurus)
    GAD11   -- glutamate decarboxylase 1 (brain, 67kDa) 92.82(n)
    97.98(a)
    517552  NM_001075756.1  NP_001069224.1 
    rat
    (Rattus norvegicus)
    Gad11   -- glutamate decarboxylase 1 90.89(n)
    97.3(a)
    24379  NM_017007.1  NP_058703.1 
    mouse
    (Mus musculus)
    Gad11, 5 2 (43.00 cM)5
    glutamic acid decarboxylase 11, 5 91.4(n)1
    97.3(a)1
    144151  NM_008077.31  NP_032103.21 
     AF3265475  AF3265485  (see all 21)
    About this table        Species with no ortholog for GAD1

    ENSEMBL Gene Tree for GAD1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for GAD1 gene
    GADL12  CSAD2  GAD22  

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


    10/350 NCBI SNPs in GAD1 are shown (see all 350 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 129)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 2 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs7693951,2
    A,C,F,H,O171425049(-) TCCCTC/TGGCCC 1 -- ut31 ese316Minor allele frequency- G:0.01NA EA EU WA NS 1506
    rs37625551,2
    A,C,F,H171380641(-) GAGACC/GGAGAG 2 -- ng51 tfbs35Minor allele frequency- G:0.29EU EA WA NS 586
    rs37625561,2
    A,C,F,H171380324(-) TCAGCG/CGAGGC 2 -- ng51 tfbs311Minor allele frequency- C:0.33EU EA WA NS 1016
    rs7693991,2
    C,F,H171425646(+) CTGTAC/TGTCTG 1 -- ut31 ese311Minor allele frequency- T:0.01NA MN EU EA WA NS 1296
    rs37490341,2
    C,F,H171381721(-) ACAGGC/TGTAAT 2 -- ut51 ese314Minor allele frequency- T:0.29EA MN EU WA NS 3288
    rs7694021,2
    C,F,H171423633(+) ACGACG/AGGAAA 1 Q/R mis118Minor allele frequency- A:0.07NA MN EU EA WA NS 1880
    rs7694061,2
    C,F,H171424705(+) CCTCTA/GTATGT 1 -- ut31 ese37Minor allele frequency- G:0.02NA MN EU EA WA NS 854
    rs37490351,2
    A,C,F171381026(-) CCCCAT/GCAAAG 2 -- ng519Minor allele frequency- G:0.33MN EA NS 2082
    rs7694031,2
    C,F,H171421781(+) CACAGT/GGGGAT 1 G/V mis1 ese39Minor allele frequency- G:0.00NA EU EA WA 922
    rs8721241,2
    C,F,H171379883(-) CCATCC/TACCGG 2 -- ng5111Minor allele frequency- T:0.01EU EA WA NS 1246
    About this table

    HapMap Linkage Disequilibrium images for GAD1 (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: 605363   disorders: 603513  

    UniProtKB/Swiss-Prot: DCE1_HUMAN, Q99259

  • Defects in GAD1 are the cause of autosomal recessive symmetric spastic cerebral palsy
    (SCP) [MIM:603513]. Cerebral palsy (CP) is an heterogeneous group of neurological disorders of
    movement and/or posture, with an estimated incidence of 1 in 250 to 1'000 live births, making CP
    one the commonest congenital disabilities. Non-progressive forms of symmetrical, spastic CP have
    been identified, which show a Mendelian autosomal recessive pattern of inheritance. Patients
    present developmental delay, mental retardation and sometimes epilepsy as part of the phenotype
  • 10/76 Novoseek disease relationships for GAD1 gene (see all 76 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    stiff-man syndrome 93.89 54 15210535 (3), 2135382 (2), 7505244 (2), 8904930 (2) (see all 42)
    diabetes mellitus insulin-dependent 86.06 104 8904930 (3), 2135382 (2), 7578849 (2), 1812896 (2) (see all 92)
    diabetes autoimmune 75.27 7 12530520 (2), 9609368 (1), 12515288 (1), 19046207 (1)
    autoimmunity 74.46 68 7926297 (4), 10588452 (2), 15111674 (2), 7532577 (2) (see all 45)
    autoimmune diseases 61.20 28 2135382 (1), 7578849 (1), 9054945 (1), 10594551 (1) (see all 25)
    autoimmune response 59.12 17 8816970 (1), 7840855 (1), 8245784 (1), 8579720 (1) (see all 12)
    schizophrenia 55.90 92 16513879 (7), 18335162 (6), 15114630 (5), 15806582 (4) (see all 35)
    diabetic ketoacidosis 52.41 2 8194658 (1), 11161135 (1)
    coxsackie virus 51.05 1 15620115 (1)
    neurological disorders 50.34 11 17579580 (2), 8979623 (1), 18514483 (1), 8004482 (1) (see all 9)
    About this table

    Human Gene Mutation Database: GAD1
    Genetic Association Database: GAD1
    Human Genome Epidemiology Navigator: GAD1 (16 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

    10/532 PubMed articles for GAD1 gene (see all 532 ):
    (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: 2571 HGNC: 4092 AceView: GAD1 Ensembl:ENSG00000128683 euGenes: HUgn2571
    ECgene: GAD1 H-InvDB: GAD1
    (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
    NIEHS-SNPshttp://egp.gs.washington.edu/data/gad1/
    Wikipedia http://en.wikipedia.org/wiki/Glutamate_decarboxylase
    (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



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