Full name: glutamate dehydrogenase 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: GDH; GDH1; GLUD; hGDH1

Summary: 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]

Expression: Ubiquitous expression in liver (RPKM 169.1), kidney (RPKM 95.6) and 24 other tissues

Gene size: 44642bp

Exon count: 18