Aliases for GLUD1 Gene
External Ids for GLUD1 Gene
Previous Symbols for GLUD1 Gene
This gene encodes glutamate dehydrogenase protein; 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 and activating mutations in this gene are a common cause of congenital hyperinsulinism. This enzyme is allosterically activated by ADP and inhibited by GTP and ATP. 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. Multiple pseudogenes of this gene are present in humans.[provided by RefSeq, Sep 2009]
GeneCards Summary for GLUD1 Gene
GLUD1 (Glutamate Dehydrogenase 1) is a Protein Coding gene. Diseases associated with GLUD1 include hyperinsulinism-hyperammonemia syndrome and hyperinsulinism. Among its related pathways are Metabolism and Arginine and proline metabolism. GO annotations related to this gene include identical protein binding and ADP binding. 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).