Title : Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy.

Pub. Date : 2017 Jan

PMID : 28058510






2 Functional Relationships(s)
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1 Mammalian isocitrate dehydrogenase (IDH) 3 is a heterotetramer of 2alfa, 1beta, and 1gamma subunits, and IDH3A encodes the alfa subunit of the mitochondrial NAD+-dependent IDH. NAD isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha Homo sapiens
2 We therefore propose that homozygosity for the p.Pro304His mutation is deleterious for mitochondrial NAD+-specific IDH3A activity in human. NAD isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha Homo sapiens