| Entrez gene ID | | 2571 |
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| Official gene symbol | | GAD1 |
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| Full name | | glutamate decarboxylase 1 (brain, 67kDa) |
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| Aliases | | ,FLJ45882,GAD,SCP, |
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| Gene summary | | 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] |
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| Location | | Chromosome: 2 Locus: 2q31 |
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| Gene position | | 171673200 - 171717661 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 44462 bp |
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| Gene sequence |
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| OMIM ID | | 605363 |
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