Article
Functional analysis of mutant human carnitine acylcarnitine translocases in yeast.
Biochemical and biophysical research communications - 26 Jan 2001
IJlst L, van Roermund C W, Iacobazzi V, Oostheim W, Ruiter J P, Williams J C, Palmieri F, Wanders R J
Abstract excerpt
Long chain fatty acids are translocated as carnitine esters across the mitochondrial inner membrane by carnitine acylcarnitine translocase (CACT). We report functional studies on the mutant CACT proteins from a severe and a mild patient with CACT deficiency. CACT activities in fibroblasts of both patients were markedly deficient with some residual activity (<1%) in the milder patient. Palmitate oxidation activity...
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