1nr1: Difference between revisions
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{{STRUCTURE_1nr1| PDB=1nr1 | SCENE= }} | {{STRUCTURE_1nr1| PDB=1nr1 | SCENE= }} | ||
===Crystal structure of the R463A mutant of human Glutamate dehydrogenase=== | |||
{{ABSTRACT_PUBMED_12653548}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/DHE3_HUMAN DHE3_HUMAN]] Defects in GLUD1 are the cause of familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:[http://omim.org/entry/606762 606762]]; also known as hyperinsulinism-hyperammonemia syndrome (HHS). Familial hyperinsulinemic hypoglycemia [MIM:[http://omim.org/entry/256450 256450]], also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. In HHF6 elevated oxidation rate of glutamate to alpha-ketoglutarate stimulates insulin secretion in the pancreatic beta cells, while they impair detoxification of ammonium in the liver.<ref>PMID:9571255</ref><ref>PMID:10636977</ref><ref>PMID:11214910</ref><ref>PMID:11297618</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/DHE3_HUMAN DHE3_HUMAN]] May be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter glutamate (By similarity). | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:012653548</ref><references group="xtra"/> | <ref group="xtra">PMID:012653548</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Banerjee, S.]] | [[Category: Banerjee, S.]] | ||
