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Literature summary for 1.3.8.7 extracted from

  • Yokoi, K.; Ito, T.; Maeda, Y.; Nakajima, Y.; Ueta, A.; Nomura, T.; Koyama, N.; Kato, I.; Suzuki, S.; Kurono, Y.; Sugiyama, N.; Togari, H.
    Acylcarnitine profiles during carnitine loading and fasting tests in a Japanese patient with medium-chain acyl-CoA dehydrogenase deficiency (2007), Tohoku J. Exp. Med., 213, 351-359.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
N396Y involved in MCAD deficiency with a MCAD activity of 11.2% compared to the wild type enzyme, in combination with the deletion mutation DELTA449-CTGA-452 Homo sapiens

Localization

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
lymphocyte
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
acyl-CoA + acceptor
-
Homo sapiens 2,3-dehydroacyl-CoA + reduced acceptor
-
?
n-octanoyl-CoA + acceptor
-
Homo sapiens 2-octenoyl-CoA + reduced acceptor
-
?

Synonyms

Synonyms Comment Organism
MCAD
-
Homo sapiens