Disease-gene associations mined from literature

Literature associating GLUD1 and familial hyperinsulinemic hypoglycemia 7

GLUD1 [ENSP00000277865]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM