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GAD1

GAD1
Protein GAD1 PDB 2okj.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases GAD1, CPSQ1, GAD, SCP, glutamate decarboxylase 1
External IDs MGI: 95632 HomoloGene: 635 GeneCards: GAD1
RNA expression pattern
PBB GE GAD1 205278 at tn.png

PBB GE GAD1 206669 at tn.png

PBB GE GAD1 206670 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000817
NM_013445

NM_008077
NM_001312900

RefSeq (protein)

NP_000808
NP_038473

NP_032103.2
NP_001299829
NP_032103

Location (UCSC) Chr 2: 170.81 – 170.86 Mb Chr 2: 70.55 – 70.6 Mb
PubMed search

2OKJ, 3VP6

NM_000817
NM_013445

NM_008077
NM_001312900

NP_000808
NP_038473

NP_032103.2
NP_001299829
NP_032103

Glutamate decarboxylase 1 (brain, 67kDa) (GAD67), also known as GAD1, is a human 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.


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