| Entrez gene ID | | 2572 |
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| Official gene symbol | | GAD2 |
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| Full name | | glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) |
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| Aliases | | ,GAD65,MGC161605,MGC161607, |
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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 autoantibody and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq] |
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| Location | | Chromosome: 10 Locus: 10p11.23 |
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| Gene position | | 26505236 - 26593491 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 88256 bp |
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| Gene sequence |
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| OMIM ID | | 138275 |
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