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Literature summary extracted from

  • Lee, Y.W.; Lee, D.H.; Vockley, J.; Kim, N.D.; Lee, Y.K.; Ki, C.S.
    Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia (2007), Mol. Genet. Metab., 92, 71-77.
    View publication on PubMedView publication on EuropePMC

Application

EC Number Application Comment Organism
1.3.8.4 medicine isovaleric acidemia is caused by isovaleryl-CoA dehydrogenase deficiency Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.3.8.4 F350V mutation is involved in isovaleric acidemia, no enzyme activity Homo sapiens
1.3.8.4 R21L mutation is involved in isovaleric acidemia, no enzyme activity Homo sapiens
1.3.8.4 S249G mutation is involved in isovaleric acidemia, no enzyme activity Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
1.3.8.4 Homo sapiens P26440
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
1.3.8.4 lymphocyte
-
 Homo sapiens
-

Substrates and Products (Substrate)

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

Synonyms

EC Number Synonyms Comment Organism
1.3.8.4 IVD
-
 Homo sapiens