Carnitine O-palmitoyltransferase 1, liver isoform

Definition:

Catalyzes the transfer of the acyl group of long-chain fatty acid-CoA conjugates onto carnitine, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion. Plays an important role in hepatic triglyceride metabolism (By similarity).

References:

[1]. L IJlst, et al. Molecular basis of hepatic carnitine palmitoyltransferase I deficiency. J Clin Invest. 1998 Aug 1;102(3):527-31. [Content Brief]

[2]. Stéphanie Gobin, et al. Functional and structural basis of carnitine palmitoyltransferase 1A deficiency. J Biol Chem. 2003 Dec 12;278(50):50428-34. [Content Brief]

[3]. C Prip-Buus, et al. Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community. Mol Genet Metab. 2001 May;73(1):46-54. [Content Brief]

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