Entrez gene ID | | 2746 |
Official gene symbol | | GLUD1 |
Full name | | glutamate dehydrogenase 1 |
Aliases | | ,GDH,GDH1,GLUD,MGC132003, |
Gene summary | | This gene encodes glutamate dehydrogenase protein; 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 and activating mutations in this gene are a common cause of congenital hyperinsulinism. This enzyme is allosterically activated by ADP and inhibited by GTP and ATP. 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. Multiple pseudogenes of this gene are present in humans. |
Location | | Chromosome: 10 Locus: 10q23.3 |
Gene position | | 88854776 - 88809959 Map Viewer |
Gene orientation | | minus |
Gene size | | 44818 bp |
Gene sequence |
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OMIM ID | | 138130 |