GLUD1, Official Symbol GLUD1provided by HGNC Official Full Name glutamate dehydrogenase 1provided by HGNC Primary source HGNC:HGNC:4335 See related Ensembl:ENSG00000148672 MIM:138130; AllianceGenome:HGNC:4335 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 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 See more Orthologs mouse all