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.

Mentioned in

References in periodicals archive

[2] Human genes: ABCC8, ATP-binding cassette subfamily C, member 8; KCNJ11, potassium inwardly rectifying channel, subfamily J, member 11; GCK, glucokinase; GLUD1, glutamate dehydrogenase 1; HADH, hydroxyacyl-Coenzyme A dehydrogenase; SLC16A1, solute carrier family 16, member 1 (monocarboxylic acid transporter 1).

Hyperinsulinism in infancy and childhood: when an insulin level is not always enough

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