基因名称(Gene Name)
GLUD1 GLUD
免疫原
Synthesized peptide derived from human DHE3
特异性
This antibody detects endogenous levels of DHE3 at Human/Mouse/Rat
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
背景
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. [provided by RefSeq, Jan 2016],
功能
catalytic activity:L-glutamate + H(2)O + NAD(P)(+) = 2-oxoglutarate + NH(3) + NAD(P)H.,disease:Defects in GLUD1 are the cause of hyperinsulinism-hyperammonemia syndrome (HHS) [MIM:606762]. Elevated oxidation rate of glutamate to alpha-ketoglutarate stimulates insulin secretion in the pancreatic beta cells, while they impair detoxification of ammonium in the liver.,enzyme regulation:Subject to allosteric regulation. Activated by ADP. Inhibited by GTP and ATP. ADP can occupy the NADH binding site and activate the enzyme.,function:May be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter glutamate.,online information:Glutamate dehydrogenase 1 entry,similarity:Belongs to the Glu/Leu/Phe/Val dehydrogenases family.,subunit:Homohexamer.,
