background:
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, Apr 2009]
Function:
Amino-acid degradation; L-leucine degradation; (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA: step 1/3.
Subcellular Location:
Mitochondrion matrix.
DISEASE:
Defects in IVD are the cause of isovaleric acidemia (IVA) [MIM:243500]. IVA is characterized by retarded psychomotor development, a peculiar odor resembling sweaty feet, an aversion to dietary protein, and pernicious vomiting, leading to acidosis and coma. The acute neonatal form leads to massive metabolic acidosis from the first days of life and rapid death.
Similarity:
Belongs to the acyl-CoA dehydrogenase family.
Database links:
Entrez Gene: 3712 Human
Entrez Gene: 51088 Cow
Entrez Gene: 56357 Mouse
Entrez Gene: 100156047 Pig
Entrez Gene: 24513 Rat
Omim: 607036 Human
SwissProt: Q3SZI8 Cow
SwissProt: P2688 Human
SwissProt: Q9JHI5 Mouse
SwissProt: P2407 Rat
Unigene: 513646 Human
Unigene: 6635 Mouse
Unigene: 147 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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