Glutamate Dehydrogenase 1, Mitochondrial (GLUD1) ELISA Kit for Human

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]

GLUD1: May be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter glutamate. Homohexamer. Subject to allosteric regulation. Activated by ADP. Inhibited by GTP and ATP. ADP can occupy the NADH binding site and activate the enzyme. Belongs to the Glu/Leu/Phe/Val dehydrogenases family.

Protein type: Mitochondrial; Energy Metabolism - nitrogen; Other Amino Acids Metabolism - D-Glutamine and D-glutamate; Amino Acid Metabolism - alanine, aspartate and glutamate; Amino Acid Metabolism - arginine and proline; Oxidoreductase; EC 1.4.1.3

Chromosomal Location of Human Ortholog: 10q23.3

Cellular Component: cytoplasm; mitochondrial matrix; mitochondrion

Molecular Function: ADP binding; ATP binding; glutamate dehydrogenase [NAD(P)+] activity; glutamate dehydrogenase activity; GTP binding; identical protein binding; protein binding

Biological Process: amino acid biosynthetic process; glutamate biosynthetic process; glutamate catabolic process; glutamine metabolic process; positive regulation of insulin secretion; substantia nigra development

Disease: Hyperinsulinemic Hypoglycemia, Familial, 6