Recombinant Human Glutamate dehydrogenase 1, mitochondrial (GLUD1)

Uniprot Id

P00367

Target Species

Human

Target Name

GLUD1

Target Full Name

Glutamate dehydrogenase 1, mitochondrial

Target 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. Plays a role in insulin homeostasis. May be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter glutamate.

Target Involvement

Familial hyperinsulinemic hypoglycemia 6 (HHF6)

Target Subcellular Location

Mitochondrion. Endoplasmic reticulum.

Target Protein Families

Glu/Leu/Phe/Val dehydrogenases family

Target Synonyms

AI118167; DHE3_HUMAN; EC 1.4.1.3; GDH 1; GDH; Gdh-X; GDH1; GLUD; Glud1; Glud1a; Glud1b; Gludl; Glutamate dehydrogenase (NAD(P)+); Glutamate dehydrogenase 1; Glutamate dehydrogenase 1 mitochondrial; Glutamate dehydrogenase 1a; Glutamate dehydrogenase 1b; Memory-related gene 2 protein; MGC127177; MGC132003; MGC80801; MGC93608; mitochondrial; MRG-2

Target Background

This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid-induced insulin secretion. It is allosterically activated by ADP and inhibited by GTP and ATP. Activating mutations in this gene are a common cause of congenital hyperinsulinism. Alternative splicing of this gene results in multiple transcript variants. The related glutamate dehydrogenase 2 gene on the human X-chromosome originated from this gene via retrotransposition and encodes a soluble form of glutamate dehydrogenase. Related pseudogenes have been identified on chromosomes 10, 18 and X.