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 Amino acid synthesis and interconversion (transamination) and Proximal tubule bicarbonate reclamation. 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).