GLUD1/GLUD2 Products

Description

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]

Bioinformatics

Product By Gene ID	2746
Alternate Names	epididymis secretory sperm binding protein epididymis tissue sperm binding protein Li 18mP GDH GDH1 GLUD glutamate dehydrogenase (NAD(P)+) glutamate dehydrogenase 1, mitochondrial hGDH1