Literature summary for 2.3.1.21 extracted from

Haap, M.; Thamer, C.; Machann, J.; Tschritter, O.; Loblein, K.; Kellerer, M.; Schick, F.; Jacob, S.; Haring, H.U.; Stumvoll, M.
Metabolic characterization of a woman homozygous for the Ser113Leu missense mutation in carnitine palmitoyl transferase II (2002), J. Clin. Endocrinol. Metab., 87, 2139-2143.

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Protein Variants

Protein Variants	Comment	Organism
S113L	natural missense mutation of CPT II, enzyme deficiency leads to myopathic syndroms, metabolic characterization, e.g. insulin resistance, increased content of muscle lipidsreduced lipolysis	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
acyl-CoA + L-carnitine	Homo sapiens	enzyme has a key function in regulation of fatty acid beta-oxidation	CoA + L-acylcarnitine	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	CPT II deficient mutant	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
acyl-CoA + L-carnitine	-	Homo sapiens	CoA + L-acylcarnitine	-	?
acyl-CoA + L-carnitine	enzyme has a key function in regulation of fatty acid beta-oxidation	Homo sapiens	CoA + L-acylcarnitine	-	?

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Release 2023.1 (January 2023)