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IVD isovaleryl-CoA dehydrogenase

Also known as: ACAD2

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]

Associated conditions

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DescriptionTests
Isovaleryl-CoA dehydrogenase deficiency
MedGen: C0268575OMIM: 243500GeneReviews: Not available
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Genomic context

Location:
15q15.1
Sequence:
Chromosome: 15; NC_000015.10 (40405485..40435948)
Total number of exons:
16

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