{"symbol":"GLUD1","synonyms":["GDH","GLUD","GDH1"],"name":"glutamate dehydrogenase 1","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]","ncbiEntrezGeneId":2746,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/2746","proteins":[{"symbol":"DHE3_HUMAN","href":"/api/1.0/protein/DHE3_HUMAN"}],"hgncRootFamilies":[]}