FMO3 - flavin containing dimethylaniline monoxygenase 3 Gene

中文名称：含黄素二甲基苯胺单加氧酶 3

种属: Homo sapiens

同用名: TMAU; FMOII; dJ127D3.1

关于 FMO3

功能概要

含黄素单加氧酶 (FMO) 是一类重要的药物代谢酶，可催化各种含氮、硫和磷的异生素 (如治疗药物、膳食化合物、杀虫剂和其他外来化合物) 的 NADPH 依赖性氧化作用.人类 FMO 基因家族由 5 个基因和多个假基因组成。 FMO 成员具有不同的发育和组织特异性表达模式。 FMO3 基因是成人肝脏中表达的主要 FMO，其表达在个体之间最多可有 20 倍的差异。 FMO3 表达水平的这种个体间差异可能对异生素的代谢率有显着影响，因此对制药行业具有相当大的兴趣。这种跨膜蛋白定位于许多组织的内质网。该基因的可变剪接导致编码不同亚型的多个转录变体。该基因的突变导致三甲基胺尿症 (TMAu) 失调，其特征是未代谢的三甲胺的积累和排泄以及独特的体味。在健康个体中，三甲胺主要转化为无味的三甲胺 N-氧化物。[RefSeq 提供，2016 年 1 月]

Flavin-containing monooxygenases (FMO) are an important class of drug-metabolizing Enzymes that catalyze the NADPH-dependent oxygenation of various nitrogen-,sulfur-, and phosphorous-containing xenobiotics such as therapeutic drugs, dietary compounds, pesticides, and other foreign compounds. The human FMO gene family is composed of 5 genes and multiple pseudogenes. FMO members have distinct developmental- and tissue-specific expression patterns. The expression of this FMO3 gene, the major FMO expressed in adult liver, can vary up to 20-fold between individuals. This inter-individual variation in FMO3 expression levels is likely to have significant effects on the rate at which xenobiotics are metabolised and, therefore, is of considerable interest to the pharmaceutical industry. This transmembrane protein localizes 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 the disorder trimethylaminuria (TMAu) which is characterized by the accumulation and excretion of unmetabolized trimethylamine and a distinctive body odor. In healthy individuals, trimethylamine is primarily converted to the non odorous trimethylamine N-oxide.[provided by RefSeq, Jan 2016]