C190590Level 5
IVD wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human IVD wild-type allele is located in the vicinity of 15q15.1 and is approximately 30 kb in length. This allele, which encodes isovaleryl-CoA dehydrogenase, mitochondrial protein, plays a role in leucine catabolism. Loss of function mutations in the gene results in an accumulation of isovaleric acid and can lead to isovaleric acidemia.
**Synonyms:** - ACAD2 - IVDH - Isovaleryl CoA Dehydrogenase Gene - Isovaleryl Coenzyme A Dehydrogenase Gene - Isovaleryl-CoA Dehydrogenase wt Allele
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Cross-system equivalences0
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