NP_001152980.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
46,319 Da
NCBI Official Full Name
isovaleryl-CoA dehydrogenase, mitochondrial isoform 2
NCBI Official Synonym Full Names
isovaleryl-CoA dehydrogenase
NCBI Official Synonym Symbols
NCBI Protein Information
isovaleryl-CoA dehydrogenase, mitochondrial; isovaleryl CoA dehydrogenase; isovaleryl Coenzyme A dehydrogenase
UniProt Protein Name
Isovaleryl-CoA dehydrogenase, mitochondrial
UniProt Synonym Gene Names
UniProt Entry Name
IVD_HUMAN
NCBI Summary for IVD
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]
UniProt Comments for IVD
IVD: Defects in IVD are the cause of isovaleric acidemia (IVA). 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. Belongs to the acyl-CoA dehydrogenase family.
Protein type: EC 1.3.8.4; Amino Acid Metabolism - valine, leucine and isoleucine degradation; Mitochondrial; Oxidoreductase
Chromosomal Location of Human Ortholog: 15q14-q15
Cellular Component: nucleoplasm; mitochondrion; mitochondrial matrix
Molecular Function: isovaleryl-CoA dehydrogenase activity; FAD binding
Biological Process: leucine catabolic process; branched chain family amino acid catabolic process
Disease: Isovaleric Acidemia
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Pathways associated with IVD elisa kit
Diseases associated with IVD elisa kit
Organs/Tissues associated with IVD elisa kit
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