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Immunogen sequence: KPCNHVLSLS FPIRRDDGSW EVIEGYRAQH SQHRTPCKGG IRYSTDVSVD EVKALASLMT YKCAVVDVPF GGAKAGVKIN PKN
Highest antigen sequence identity to the following orthologs: Mouse - 100%, Rat - 100%.
Glutamate dehydrogenase, GluD1, 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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: epididymis tissue sperm binding protein Li 18mP; GDH 1; glutamate dehydrogenase (NAD(P)+); Glutamate dehydrogenase 1, mitochondrial
基因别名: GDH; GDH1; GLUD; GLUD1
UniProt ID: (Human) P00367
Entrez Gene ID: (Human) 2746