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Literature summary extracted from

  • Bei, F.; Sun, J.H.; Yu, Y.G.; Jia, J.; Zheng, Z.J.; Fu, Q.H.; Cai, W.
    Two novel isovaleryl-CoA dehydrogenase gene mutations in a Chinese infant (2013), Gene, 524, 396-400.
    View publication on PubMed

Protein Variants

EC Number Protein Variants Comment Organism
1.3.8.4 I199M naturally occuring missense mutation in a Chinese infant, G39A genotype, phenotype, overview Homo sapiens
1.3.8.4 W13X naturally occuring missense mutation in a Chinese infant, C597G genotype, phenotype, overview. The mutation may destabilize the IVD monomer structure and affect the interaction between IVD and flavin adenine dinucleotide Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
1.3.8.4 mitochondrion
-
 Homo sapiens 5739
-

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
1.3.8.4 isovaleryl-CoA + FAD Homo sapiens
-
 3-methylcrotonyl-CoA + FADH2
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
1.3.8.4 Homo sapiens
-
-
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.3.8.4 isovaleryl-CoA + FAD
-
 Homo sapiens 3-methylcrotonyl-CoA + FADH2
-
 ?

Cofactor

EC Number Cofactor Comment Organism Structure
1.3.8.4 FAD
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
1.3.8.4 malfunction deficiency in isovaleryl-CoA dehydrogenase causes isovaleric acidemia, a rare inherited metabolic disease Homo sapiens