Aliases for GLUD1 Gene
External Ids for GLUD1 Gene
Previous HGNC Symbols for GLUD1 Gene
Previous GeneCards Identifiers for GLUD1 Gene
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]
GeneCards Summary for GLUD1 Gene
GLUD1 (Glutamate Dehydrogenase 1) is a Protein Coding gene. Diseases associated with GLUD1 include Hyperinsulinism-Hyperammonemia Syndrome and Glud1-Related Hyperinsulinism. Among its related pathways are Alanine, aspartate and glutamate metabolism and Glucose / Energy Metabolism. GO annotations related to this gene include identical protein binding and oxidoreductase activity. An important paralog of this gene is GLUD2.
UniProtKB/Swiss-Prot for GLUD1 Gene
Mitochondrial glutamate dehydrogenase that converts L-glutamate into alpha-ketoglutarate. Plays a key role in glutamine anaplerosis by producing alpha-ketoglutarate, an important intermediate in the tricarboxylic acid cycle. May be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter glutamate (By similarity).