Glutamate dehydrogenase, GluD1, 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.
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Protein Aliases: epididymis tissue sperm binding protein Li 18mP; GDH 1; glutamate dehydrogenase (NAD(P)+); Glutamate dehydrogenase 1, mitochondrial; Memory-related gene 2 protein; MRG-2
Gene Aliases: Ac2-281; AI118167; GDH; Gdh-X; GDH1; GLUD; GLUD1; Gludeha; Gludl; MRG-2
Molecular Function: dehydrogenase