Article
Functional characterization of genetic variants of human FMO3 associated with trimethylaminuria.
Archives of biochemistry and biophysics - 15 Aug 2007
Yeung Catherine K, Adman Elinor T, Rettie Allan E
Abstract excerpt
Impaired conversion of trimethylamine to trimethylamine N-oxide by human flavin containing monooxygenase 3 (FMO3) is strongly associated with primary trimethylaminuria, also known as 'fish-odor' syndrome. Numerous non-synonymous mutations in FMO3 have been identified in patients suffering from this metabolic disorder (e.g., N61S, M66I, P153L, and R492W), but the molecular mechanism(s) underlying the functional...
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