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Literature summary for 1.3.8.4 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
Search for more literature for 1.3.8.4

Application

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

Protein Variants

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

Organism

Organism UniProt Comment Textmining
Homo sapiens P26440
-
-

Source Tissue

Source Tissue Comment Organism Textmining
lymphocyte
-
 Homo sapiens
-

Substrates and Products (Substrate)

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

Synonyms

Synonyms Comment Organism
IVD
-
 Homo sapiens