GLUD1
Function
Mitochondrial glutamate dehydrogenase that catalyzes the conversion of L-glutamate into alpha-ketoglutarate. Plays a key role in glutamine anaplerosis by producing alpha-ketoglutarate, an important intermediate in the tricarboxylic acid cycle (PubMed:11032875, PubMed:11254391, PubMed:16023112, PubMed:16959573). Plays a role in insulin homeostasis (PubMed:11297618, PubMed:9571255). May be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter glutamate (By similarity).
Involvement in disease
Hyperinsulinemic hypoglycemia, familial, 6
HHF6
A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF6 is an autosomal dominant form characterized by hypoglycemia due to congenital hyperinsulinism combined with persistent hyperammonemia. Clinical features include loss of consciousness due to hypoglycemia, hypoglycemic seizures, and mental retardation.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
ADP-ribosylated by SIRT4, leading to inactivate glutamate dehydrogenase activity (PubMed:16959573). Stoichiometry shows that ADP-ribosylation occurs in one subunit per catalytically active homohexamer (PubMed:16023112).
Sequence Similarities
Belongs to the Glu/Leu/Phe/Val dehydrogenases family.
Cellular localization
- Mitochondrion
- Endoplasmic reticulum
- Mostly translocates into the mitochondria, only a small amount of the protein localizes to the endoplasmic reticulum.
Alternative names
GLUD, GLUD1, GDH 1