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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
FMO3 - Flavin Containing Dimethylaniline Monoxygenase 3
Alias:
TMAU
FMOII
dJ127D3.1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
含黄素单氧化酶(FMO)是一类重要的药物代谢酶,它们催化各种含氮、硫和磷的外源性物质如治疗药物、食物成分、农药和其他外来化合物的NADPH依赖的氧化作用。人类FMO基因家族由5个基因和多个假基因组成。FMO成员具有独特的发育和组织特异性表达模式。FMO3基因在成人肝脏中表达的主要FMO在个体之间表达水平差异可达20倍。这种FMO3表达水平的个体间变异可能对外来物质代谢速率产生显著影响,因此对制药工业具有重要意义。这种跨膜蛋白定位在许多组织的内质网中。该基因的可变剪接产生多种转录变异体,编码不同的异构体。该基因的突变导致三甲基胺尿症(TMAu),其特征是未代谢三甲基胺的积累和排泄以及独特的体臭。在健康个体中,三甲基胺主要被转化为无臭的三甲基胺N-氧化物。[RefSeq,2016年1月提供]
Related ID:
NCBI:2328
ENSEMBL:ENSG00000007933
HGNC:3771
UNIPROT:P31513
OMIM:136132
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
2328
5
9
26915 bp
60.03
103
2
9
25
FMO3 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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