Gene Symbol | IVD |
Entrez Gene ID | 3712 |
Full Name | isovaleryl-CoA dehydrogenase |
Synonyms | ACAD2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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 have been found for this gene. [provided by RefSeq, Aug 2017]. |
Disorder MIM: | |
Disorder Html: | Isovaleric acidemia, 243500 (3) |