SUBCELLULAR LOCALIZATION
| intracellular
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| intracellular,cytoplasm,organelle,membrane
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| intracellular,cytoplasm,organelle,Golgi
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| intracellular,cytoplasm,cytosolic,granule
|
text
| cytosolic, and associated to cytoplasmic vesicles |
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in neurons, cytosolic leaflet of golgi membranes and presynaptic clusters |
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mainly expressed in synaptic terminals |
basic FUNCTION
| catalyzing the production of gamma-aminobutyric acid from L-glutamic acid |
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play a central role in neurotransmission in higher vertebrates and is a typical autoantigen in several autoimmune diseases, such as insulin-dependent diabetes mellitus (IDDM), Stiff-man syndrome and autoimmune polyendocrine syndrome type I |
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rate limiting enzyme for conversion of glutamic acid to gamma-aminobutyric acid (GABA) |
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polygenic component of the complex mechanisms linking birth weight to further risk for metabolic diseases, possibly involving the pleiotropic effect of insulin on fetal growth and later on feeding behavior |
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important during sustained synaptic transmission |
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significant role of GAD2 in the synthesis of GABA acting extrasynaptically |
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importance of GAD2 for synthesis of GABA destined for extrasynaptic tonic inhibition, regulating epileptiform activity |
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GAD2 palmitoylation is important for the delivery of GAD2 to inhibitory synapses, suggesting that impairment of GAD2 palmitoylation may lead to altered inhibitory neurotransmission in Huntington disease |