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Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isovaleric acidemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Gene Name: | isovaleryl-CoA dehydrogenase |
Synonyms: | IVD, ACAD2, Isovaleryl CoA dehydrogenase, Isovaleryl-CoA dehydrogenase |
Target Sequences: | NM_002225 NP_002216.2 P26440 |
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