This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid-induced insulin secretion. It is allosterically activated by ADP and inhibited by GTP and ATP. Activating mutations in this gene are a common cause of congenital hyperinsulinism. Alternative splicing of this gene results in multiple transcript variants. The related glutamate dehydrogenase 2 gene on the human X-chromosome originated from this gene via retrotransposition and encodes a soluble form of glutamate dehydrogenase. Related pseudogenes have been identified on chromosomes 10, 18 and X. [provided by RefSeq, Jan 2016]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| GLUD1-20-RE | 20 (40 μL) | 200 μL |  |
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| GLUD1-20-OR | 20 (40 μL) | 200 μL |  |
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| GLUD1-20-GO | 20 (40 μL) | 200 μL |  |
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| GLUD1-20-GR | 20 (40 μL) | 200 μL |  |
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| GLUD1-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid-induced insulin secretion. It is allosterically activated by ADP and inhibited by GTP and ATP. Activating mutations in this gene are a common cause of congenital hyperinsulinism. Alternative splicing of this gene results in multiple transcript variants. The related glutamate dehydrogenase 2 gene on the human X-chromosome originated from this gene via retrotransposition and encodes a soluble form of glutamate dehydrogenase. Related pseudogenes have been identified on chromosomes 10, 18 and X. [provided by RefSeq, Jan 2016]
Gene Symbol : GLUD1
Gene Name : Glutamate dehydrogenase 1
Chromosome : CHR 10: 870,950,46-870,502,01
Locus : 10q23.2
Alt. Genes : LRPPRC
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