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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.
Ac2-281; AI118167; brain glutamate dehydrogenase; epididymis tissue sperm binding protein Li 18mP; GDH; GDH 1; GDH 2; Gdh1; GDH2; Gdh-X; Glud; GLUD1; GLUD1 protein; GLUD2; Gludeha; Gludl; GLUDP1; gluR delta-1 subunit; GluRdelta1; glutamate dehydrogenase; glutamate dehydrogenase (NAD(P)+); glutamate dehydrogenase 1; glutamate dehydrogenase 1, mitochondrial; glutamate dehydrogenase 2; glutamate dehydrogenase 2, mitochondrial; glutamate dehydrogenase pseudogene 1; glutamate ionotropic receptor delta type subunit 1; glutamate receptor delta-1 subunit; glutamate receptor ionotropic, delta-1; glutamate receptor, ionotropic, delta 1; Grid1; KIAA1220; Membrane protein 50; memory-related gene 2 protein; MP50; MRG-2; testicular secretory protein Li 14
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