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Literature summary for 1.3.8.9 extracted from

  • Isackson, P.; Sutton, K.; Hostetler, K.; Vladutiu, G.
    Novel mutations in the gene encoding very long-chain acyl-CoA dehydrogenase identified in patients with partial carnitine palmitoyltransferase II deficiency (2013), Muscle Nerve, 47, 224-229.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
T409M the mutation is associated with partial carnitine palmitoyltransferase II deficiency Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P49748
-
-

Synonyms

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