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 a... See more...

Aliases for GAD1 Gene

Aliases for GAD1 Gene

  • Glutamate Decarboxylase 1 2 3 4 5
  • Glutamate Decarboxylase 1 (Brain, 67kDa) 2 3
  • 67 KDa Glutamic Acid Decarboxylase 3 4
  • EC 4.1.1.15 4 50
  • GAD-67 3 4
  • GAD 3 4
  • Glutamate Decarboxylase 1 (Brain, 67kD) 2
  • Glutamate Decarboxylase 67 KDa Isoform 4
  • EC 4.1.1 50
  • CPSQ1 3
  • DEE89 3
  • GAD67 4
  • GAD1 5
  • SCP 3

External Ids for GAD1 Gene

Previous HGNC Symbols for GAD1 Gene

  • GAD

Previous GeneCards Identifiers for GAD1 Gene

  • GC02P169724
  • GC02P170214
  • GC02P171637
  • GC02P171875
  • GC02P171498
  • GC02P171381
  • GC02P171669
  • GC02P163562

Summaries for GAD1 Gene

Entrez Gene Summary for GAD1 Gene

  • 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, Jul 2008]

GeneCards Summary for GAD1 Gene

GAD1 (Glutamate Decarboxylase 1) is a Protein Coding gene. Diseases associated with GAD1 include Cerebral Palsy, Spastic Quadriplegic, 1 and Developmental And Epileptic Encephalopathy 89. Among its related pathways are Beta-alanine metabolism (TR) and Butanoate metabolism. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and pyridoxal phosphate binding. An important paralog of this gene is GAD2.

UniProtKB/Swiss-Prot Summary for GAD1 Gene

Gene Wiki entry for GAD1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GAD1 Gene

Genomics for GAD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GAD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J170815 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 279 +4.9 4891 4.6 IKZF1 ZNF654 MYC ZIC2 REST TRIM22 HES1 BHLHE40 ZNF341 CTCF GAD1 ENSG00000235934 DAP3P2 RPS15P4 DCAF17 ERICH2 ENSG00000286611 GORASP2
GH02J170814 Promoter/Enhancer 1 Ensembl ENCODE 264.2 +1.1 1091 0.2 REST ETS1 SIN3A SAP130 RARA EHMT2 MAX HBP1 MIER2 ELF3 GAD1 ENSG00000234350 ENSG00000235934 GORASP2
GH02J170812 Promoter/Enhancer 1 Ensembl ENCODE 250.7 -0.3 -309 0.2 ZNF654 IKZF1 REST TRIM22 CTCF RAD21 SMC3 EBF1 RB1 MIER2 ENSG00000234350 GAD1 ENSG00000235934 ENSG00000222509 ERICH2
GH02J170713 Promoter/Enhancer 2.5 UCNEbase EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 8.7 -97.5 -97543 4.2 MYC SSRP1 ZNF592 KLF9 CEBPA NFIC ZIC2 CHD4 MXD4 NONO LINC01124 SP5 DCAF17 DAP3P2 RPS15P4 ENSG00000234350 GORASP2 TLK1 GAD1 HSALNG0020308
GH02J170370 Enhancer 0.8 Ensembl ENCODE 22 -442.6 -442609 2.4 ZNF654 REST CTCF SMC3 ZNF316 NFE2 RAD21 MAFG MAFK NR4A1 GAD1 ENSG00000235934 MYO3B SP5 HSALNG0020299-002 MYO3B-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GAD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GAD1

Top Transcription factor binding sites by QIAGEN in the GAD1 gene promoter:
  • AP-1
  • AP-2gamma
  • ATF-2
  • c-Jun
  • HOXA5
  • Pax-5

Genomic Locations for GAD1 Gene

Latest Assembly
chr2:170,813,210-170,861,151
(GRCh38/hg38)
Size:
47,942 bases
Orientation:
Plus strand

Previous Assembly
chr2:171,673,397-171,717,661
(GRCh37/hg19 by Entrez Gene)
Size:
44,265 bases
Orientation:
Plus strand

chr2:171,669,723-171,717,661
(GRCh37/hg19 by Ensembl)
Size:
47,939 bases
Orientation:
Plus strand

Genomic View for GAD1 Gene

Genes around GAD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GAD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GAD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GAD1 Gene

Proteins for GAD1 Gene

  • Protein details for GAD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99259-DCE1_HUMAN
    Recommended name:
    Glutamate decarboxylase 1
    Protein Accession:
    Q99259
    Secondary Accessions:
    • Q49AK1
    • Q53TQ7
    • Q9BU91
    • Q9UHH4

    Protein attributes for GAD1 Gene

    Size:
    594 amino acids
    Molecular mass:
    66897 Da
    Cofactor:
    Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer.
    Miscellaneous:
    • [Isoform 3]: Lacks enzymatic activity.

    Three dimensional structures from OCA and Proteopedia for GAD1 Gene

    Alternative splice isoforms for GAD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GAD1 Gene

Selected DME Specific Peptides for GAD1 Gene

Q99259:
  • TLKKMREI
  • MMESGTTMV
  • SYDTGDK
  • YLYAKIKNREEFEMVF
  • ATAGTTVYGAFDP
  • KVLDFHHP
  • HPRFFNQL
  • NFFRMVISNPAAT
  • GDGIFSPGG
  • TANTNMFTYEIAPVF
  • HVDAAWGGGLLMS
  • KCLELAEYLY
  • DAAWGGGLLMSRKH
  • RFRRTETDFSNLFA
  • SVTWNPHK
  • EIADICE
  • DLLPAKNGEEQT
  • SHYSIKKAGAALGFGTDNVILIKCNERGKIIPAD
  • FNQLSTGLD
  • GEPEHTNVCFWYIPQSLRG

Post-translational modifications for GAD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

  • Abcam antibodies for GAD1

Domains & Families for GAD1 Gene

Gene Families for GAD1 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for GAD1 Gene

GenScript: Design optimal peptide antigens:
  • Glutamate decarboxylase 67 kDa isoform (DCE1_HUMAN)
  • Glutamate decarboxylase 1 (Brain, 67kDa) (Q8IVA8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q99259

UniProtKB/Swiss-Prot:

DCE1_HUMAN :
  • Belongs to the group II decarboxylase family.
Family:
  • Belongs to the group II decarboxylase family.
genes like me logo Genes that share domains with GAD1: view

Function for GAD1 Gene

Molecular function for GAD1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the production of GABA.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + L-glutamate = 4-aminobutanoate + CO2; Xref=Rhea:RHEA:17785, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:29985, ChEBI:CHEBI:59888; EC=4.1.1.15;.
GENATLAS Biochemistry:
glutamate decarboxylase 1,brain,67kDa,extramitochondrial,GABA formation,autoantigen in stiff man syndrome,in women affected by breast cancer

Enzyme Numbers (IUBMB) for GAD1 Gene

Phenotypes From GWAS Catalog for GAD1 Gene

Gene Ontology (GO) - Molecular Function for GAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004351 glutamate decarboxylase activity IEA,IDA 10671565
GO:0005515 protein binding IPI 10671565
GO:0016595 glutamate binding IEA --
GO:0016829 lyase activity IEA --
genes like me logo Genes that share ontologies with GAD1: view
genes like me logo Genes that share phenotypes with GAD1: view

Human Phenotype Ontology for GAD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GAD1 Gene

MGI Knock Outs for GAD1:

miRNA for GAD1 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GAD1

No data available for Transcription Factor Targets and HOMER Transcription for GAD1 Gene

Localization for GAD1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GAD1 gene
Compartment Confidence
plasma membrane 4
nucleus 4
cytosol 4
extracellular 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005938 cell cortex IEA --
GO:0012506 vesicle membrane NAS 10671565
GO:0030424 axon IEA --
genes like me logo Genes that share ontologies with GAD1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GAD1 Gene

Pathways & Interactions for GAD1 Gene

genes like me logo Genes that share pathways with GAD1: view

SIGNOR curated interactions for GAD1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for GAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006538 glutamate catabolic process TAS 10671565
GO:0006540 glutamate decarboxylation to succinate TAS 1549570
GO:0007268 chemical synaptic transmission TAS 8954991
GO:0007269 neurotransmitter secretion TAS --
GO:0009449 gamma-aminobutyric acid biosynthetic process IEA --
genes like me logo Genes that share ontologies with GAD1: view

Drugs & Compounds for GAD1 Gene

(63) Drugs for GAD1 Gene - From: DrugBank, PharmGKB, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutamic acid Approved Nutra Target 324
Pyridoxal Phosphate Approved, Investigational Nutra Target, Target, cofactor 18
Methadone Approved Pharma 418
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Famotidine Approved Pharma Histamine H2-receptor antagonist 99

(20) Additional Compounds for GAD1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GAD1: view

Transcripts for GAD1 Gene

mRNA/cDNA for GAD1 Gene

2 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GAD1

Alternative Splicing Database (ASD) splice patterns (SP) for GAD1 Gene

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: -
SP6:
SP7: - - - -
SP8: - - -
SP9: - - - - -
SP10: - - - -
SP11:
SP12:
SP13:

ExUns: 16 ^ 17a · 17b · 17c ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22a · 22b · 22c
SP1: - - -
SP2: - -
SP3: - - -
SP4:
SP5: - -
SP6: - -
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:
SP13:

Relevant External Links for GAD1 Gene

GeneLoc Exon Structure for
GAD1

Expression for GAD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GAD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GAD1 Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x6.5), Brain - Hypothalamus (x5.9), Brain - Nucleus accumbens (basal ganglia) (x5.3), Brain - Frontal Cortex (BA9) (x5.0), Brain - Putamen (basal ganglia) (x4.9), and Brain - Caudate (basal ganglia) (x4.9).

Protein differential expression in normal tissues from HIPED for GAD1 Gene

This gene is overexpressed in Frontal cortex (32.8), Platelet (18.5), Fetal Brain (11.2), and Retina (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GAD1 Gene



Protein tissue co-expression partners for GAD1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GAD1

SOURCE GeneReport for Unigene cluster for GAD1 Gene:

Hs.420036

mRNA Expression by UniProt/SwissProt for GAD1 Gene:

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

Evidence on tissue expression from TISSUES for GAD1 Gene

  • Nervous system(5)
  • Pancreas(4.3)
  • Intestine(3.9)
  • Skin(2.4)
  • Eye(2.4)
  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GAD1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • face
  • head
  • skull
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with GAD1: view

Orthologs for GAD1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GAD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GAD1 29 30
  • 99.44 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GAD1 30
  • 95 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia GAD1 29 30
  • 93.71 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GAD1 30
  • 93 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia GAD1 29 30
  • 92.71 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gad1 29 16 30
  • 91.62 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gad1 29
  • 91.11 (n)
Chicken
(Gallus gallus)
Aves GAD67 30
  • 93 (a)
OneToOne
GAD1 29
  • 83.48 (n)
Lizard
(Anolis carolinensis)
Reptilia GAD1 30
  • 92 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gad1 29
  • 78.86 (n)
Str.6300 29
African clawed frog
(Xenopus laevis)
Amphibia gad1-A 29
Zebrafish
(Danio rerio)
Actinopterygii gad1a 30
  • 80 (a)
OneToMany
gad1b 30
  • 80 (a)
OneToMany
gad1 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13444 29
Fruit Fly
(Drosophila melanogaster)
Insecta Gad1 29 30 31
  • 61.29 (n)
OneToMany
b 31
  • 47 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005866 29
  • 60.43 (n)
Worm
(Caenorhabditis elegans)
Secernentea unc-25 29 30 31
  • 58.05 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.19 30
  • 59 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU06112 29
  • 47.11 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.6607 29
Species where no ortholog for GAD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for GAD1 Gene

ENSEMBL:
Gene Tree for GAD1 (if available)
TreeFam:
Gene Tree for GAD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GAD1: view image
Alliance of Genome Resources:
Additional Orthologs for GAD1

Paralogs for GAD1 Gene

Paralogs for GAD1 Gene

(5) SIMAP similar genes for GAD1 Gene using alignment to 9 proteins:

  • DCE1_HUMAN
  • C9J6C9_HUMAN
  • C9JLZ7_HUMAN
  • C9JN45_HUMAN
  • C9JT43_HUMAN
  • F8WD43_HUMAN
  • Q49AK1_HUMAN
  • Q8IVA8_HUMAN
  • U3KQR2_HUMAN

Pseudogenes.org Pseudogenes for GAD1 Gene

genes like me logo Genes that share paralogs with GAD1: view

Variants for GAD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GAD1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
1000988 Uncertain Significance: Cerebral palsy, spastic quadriplegic, 1 170,859,820(+) G/A
NM_000817.3(GAD1):c.1723G>A (p.Ala575Thr)
MISSENSE
1008975 Uncertain Significance: Cerebral palsy, spastic quadriplegic, 1 170,857,123(+) G/A
NM_000817.3(GAD1):c.1519G>A (p.Glu507Lys)
MISSENSE
1022548 Uncertain Significance: Cerebral palsy, spastic quadriplegic, 1 170,853,874(+) G/A
NM_000817.3(GAD1):c.1265G>A (p.Gly422Asp)
MISSENSE
1028872 Uncertain Significance: Cerebral palsy, spastic quadriplegic, 1 170,849,367(+) G/A
NM_000817.3(GAD1):c.1184+17G>A
INTRON
843952 Uncertain Significance: Cerebral palsy, spastic quadriplegic, 1 170,859,735(+) G/C
NM_000817.3(GAD1):c.1638G>C (p.Met546Ile)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GAD1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for GAD1 Gene

Variant ID Type Subtype PubMed ID
esv2673900 CNV deletion 23128226
esv2721125 CNV deletion 23290073
esv2721126 CNV deletion 23290073
esv2721127 CNV deletion 23290073
esv2721129 CNV deletion 23290073
nsv508179 CNV deletion 20534489
nsv528929 CNV loss 19592680

Variation tolerance for GAD1 Gene

Residual Variation Intolerance Score: 15.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.74; 66.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GAD1 Gene

Human Gene Mutation Database (HGMD)
GAD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GAD1
Leiden Open Variation Database (LOVD)
GAD1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GAD1 Gene

Disorders for GAD1 Gene

MalaCards: The human disease database

(60) MalaCards diseases for GAD1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search GAD1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DCE1_HUMAN
  • Cerebral palsy, spastic quadriplegic 1 (CPSQ1) [MIM:603513]: A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest symmetrical, non-progressive spasticity and no adverse perinatal history or obvious underlying alternative diagnosis. Developmental delay, mental retardation and sometimes epilepsy can be part of the clinical picture. {ECO:0000269 PubMed:15571623}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for GAD1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GAD1: view

No data available for Genatlas for GAD1 Gene

Publications for GAD1 Gene

  1. Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders. (PMID: 15571623) Lynex CN … Markham AF (BMC neurology 2004) 3 4 22 72
  2. Two human glutamate decarboxylases, 65-kDa GAD and 67-kDa GAD, are each encoded by a single gene. (PMID: 1549570) Bu DF … Tobin AJ (Proceedings of the National Academy of Sciences of the United States of America 1992) 2 3 4 22
  3. Associations of glutamate decarboxylase genes with initial sensitivity and age-at-onset of alcohol dependence in the Irish Affected Sib Pair Study of Alcohol Dependence. (PMID: 19111404) Kuo PH … Riley BP (Drug and alcohol dependence 2009) 3 22 40
  4. A population-based association study of glutamate decarboxylase 1 as a candidate gene for autism. (PMID: 19139806) Buttenschøn HN … Mors O (Journal of neural transmission (Vienna, Austria : 1996) 2009) 3 22 40
  5. Comprehensive analysis of polymorphisms throughout GAD1 gene: a family-based association study in schizophrenia. (PMID: 18335162) Du J … He L (Journal of neural transmission (Vienna, Austria : 1996) 2008) 3 22 40

Products for GAD1 Gene

Sources for GAD1 Gene