Literature summary for 1.3.8.8 extracted from

Law, L.K.; Tang, N.L.; Tong, M.K.; Mak, T.W.; Wanders, R.J.; Lam, C.W.
Novel missense mutations in the first Chinese patient with very-long-chain acyl-CoA dehydrogenase deficiency (2007), Clin. Chim. Acta, 375, 173-174.

Search for more literature for 1.3.8.8

Protein Variants

Protein Variants	Comment	Organism
K259M	missense mutation leading to VLCAD deficiency	Homo sapiens
L462Q	missense mutation leading to VLCAD deficiency	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P49748	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
fibroblast	-	Homo sapiens	-
leukocyte	-	Homo sapiens	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
palmitoyl-CoA + electron-transfer flavoprotein	-	Homo sapiens	(2E)-2-hexadecenoyl-CoA + reduced electron-transfer flavoprotein	-	?

Synonyms

Synonyms	Comment	Organism
very-long-chain acyl-CoA dehydrogenase	-	Homo sapiens
VLCAD	-	Homo sapiens

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Release 2023.1 (January 2023)