GLUD1
GLUD1
A gene on chromosome 10q23.3 that encodes glutamate dehydrogenase 1, a mitochondrial matrix enzyme which catalyses the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. It plays a key role in regulating amino acid-induced insulin secretion. GLUD1 is allosterically activated by ADP and inhibited by GTP and ATP; it may be involved in learning and memory by increasing the turnover of the neurotransmitter glutamate.Molecular pathology
Missense mutations of GLUD1 cause hyperinsulinemic hypoglycaemia type 6.