Description

The GLUD1 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. Mutations in this gene are a common cause of congenital hyperinsulinism, a condition that causes individuals to have abnormally high levels of insulin (Santer et al., 2001).

External Information

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