![]() ![]() Syndromes: a comprehensive study of molecular and biochemical findings in 13 The molecular basis of lecithin:cholesterol acyltransferase deficiency T, Sessa A, Vaudo G, Cantafora A, Veglia F, Calandra S, Bertolini S, Franceschini Lupattelli G, Montali A, Pizzolitto S, Rabbone I, Rolleri M, Ruotolo G, Sampietro Calabresi L, Pisciotta L, Costantin A, Frigerio I, Eberini I, Alessandrini P,Īrca M, Bon GB, Boscutti G, Busnach G, Frasca G, Gesualdo L, Gigante M,.Mutations that affect both alpha-LCAT activity and beta-LCAT activity lead to a related disorder called complete LCAT deficiency, which involves corneal opacities in combination with features affecting other parts of the body. It is not known why the cholesterol deposits affect only the corneas in this disorder. Impairment of this mechanism for reducing cholesterol in the body leads to cholesterol-containing opacities in the corneas. LCAT gene mutations that cause fish-eye disease impair alpha-LCAT activity, reducing the enzyme's ability to attach cholesterol to HDL. Beta-LCAT activity helps attach cholesterol to other lipoproteins called very low-density lipoprotein (VLDL) and low-density lipoprotein (LDL). ![]() Alpha-LCAT activity helps attach cholesterol to a lipoprotein called high-density lipoprotein (HDL). The enzyme has two major functions, called alpha- and beta-LCAT activity. Once in the liver, the cholesterol is redistributed to other tissues or removed from the body. The LCAT enzyme plays a role in removing cholesterol from the blood and tissues by helping it attach to molecules called lipoproteins, which carry it to the liver. This gene provides instructions for making an enzyme called lecithin-cholesterol acyltransferase (LCAT). Fish-eye disease is caused by mutations in the LCAT gene. ![]()
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