Rabbit anti-Human GLUD1 Monoclonal Antibody

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.