Entrez gene ID | | 3712 |
Official gene symbol | | IVD |
Full name | | isovaleryl-CoA dehydrogenase |
Aliases | | ,ACAD2,FLJ12715,FLJ34849, |
Gene 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 encoding different isoforms have been found for this gene. [provided by RefSeq] |
Location | | Chromosome: 15 Locus: 15q14-q15 |
Gene position | | 40697686 - 40713512 Map Viewer |
Gene orientation | | plus |
Gene size | | 15827 bp |
Gene sequence |
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OMIM ID | | 607036 |