Protein Name glutamate dehydrogenase 1
Organism Homo sapiens
Gene ID 2746
Gene Symbol

GLUD1

UniProt P00367 (DHE3_HUMAN), E9KL48 (E9KL48_HUMAN)
Relationships Total Number of functionally related compound(s) : 271
Total Number of Articles : 338
Description

glutamate dehydrogenase 1

Gene 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]

synonyms
  • glutamate dehydrogenase 1, mitochondrial
  • epididymis secretory sperm binding protein
  • epididymis tissue sperm binding protein Li 18mP
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Properties