Article
Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.
Human genetics - 1 Aug 2002
Gobin Stéphanie, Bonnefont Jean-Paul, Prip-Buus Carina, Mugnier Claude, Ferrec Magali, Demaugre France, Saudubray Jean-Marie, Rostane Hidayeth, Djouadi Fatima, Wilcox William, Cederbaum Stephen, Haas Richard, Nyhan William L, Green Anne, Gray George, Girard Jean, Thuillier Laure
Abstract excerpt
Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a rare autosomal recessive disorder of mitochondrial fatty acid oxidation. CPT1 controls the import of long-chain fatty acids into the mitochondria, where they are oxidized. Two CPT1 isoforms, the so-called "liver" and "muscle" CPT1s encoded by the CPT1Aand CPT1Bgenes, respectively, have been identified so far. While the cDNA sequences of both isoforms are...
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