Article
Purification and characterization of two polymorphic variants of short chain acyl-CoA dehydrogenase reveal reduction of catalytic activity and stability of the Gly185Ser enzyme.
Biochemistry - 17 Sept 2002
Nguyen Tien V, Riggs Charles, Babovic-Vuksanovic Dusica, Kim Yong-Sung, Carpenter John F, Burghardt Thomas P, Gregersen Niels, Vockley Jerry
Abstract excerpt
Short chain acyl-CoA dehydrogenase (SCAD) is a homotetrameric flavoenzyme that catalyzes the first intramitochondrial step in the beta-oxidation of fatty acids. Two polymorphisms in the coding region of the SCAD gene, 511C>T (R147W) and 625G>A (G185S), have been shown to be associated with an increased level of ethylmalonic acid excretion in urine, a clinical characteristic of SCAD deficiency. To characterize the...
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