Literature associating GLUD1 and familial hyperinsulinemic hypoglycemia 7
Glutamate dehydrogenase 1, mitochondrial; Mitochondrial glutamate dehydrogenase that converts L- glutamate into alpha-ketoglutarate. Plays a key role in glutamine anaplerosis by producing alpha-ketoglutarate, an important intermediate in the tricarboxylic acid cycle. May be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter glutamate (By similarity); Belongs to the Glu/Leu/Phe/Val dehydrogenases family.
Synonyms: GLUD1, GLUD1p, hGLUD1, B3KV55, E9KL48 ...