Analysis of FMO3 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1000-LGZ)

Introduction

Official Full Name: flavin containing dimethylaniline monoxygenase 3<br />Also known as: TMAU; FMOII; dJ127D3.1<br />Flavin monooxygenases (FMOs) are an important class of drug-metabolizing enzymes that catalyze the nadph-dependent oxygenation of various nitrogen-, sulfur-, and phosphorus-containing xenobiotics such as therapeutic drugs, dietary compounds, pesticides, and other exotic compounds. The human FMO gene family consists of 5 genes and multiple pseudogenes. FMO members have distinct developmental and tissue-specific expression patterns. This FMO3 gene is the major FMO expressed in the adult liver, with up to 20-fold variation in expression between individuals. Such inter-individual differences in FMO3 expression levels may have a major impact on the metabolic rate of exogenous drugs and are therefore of great interest to the pharmaceutical industry. This transmembrane protein is localized to the endoplasmic reticulum of many tissues. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Mutations in this gene cause trimethylaminuria (TMAu), which is characterized by accumulation and excretion of unmetabolized trimethylamine and a distinctive body odour. In healthy individuals, trimethylamine is mainly converted to the odorless trimethylamine n-oxide.