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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
DUOX1 - Dual Oxidase 1
Alias:
LNOX1
THOX1
NOXEF1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一种糖蛋白,是NADPH氧化酶家族的成员。甲状腺激素的合成是由位于甲状腺滤泡细胞顶膜上的一个蛋白质复合体催化完成的。这个复合体包含一个碘转运蛋白、甲状腺过氧化物酶和一个过氧化氢生成系统,该系统包括这个基因和相似的DUOX2基因编码的蛋白质。这个蛋白质被称为双氧化酶,因为它具有过氧化物酶相似结构和gp91phox结构域。这个蛋白质产生过氧化氢,并因此参与甲状腺过氧化物酶、乳过氧化物酶以及黏膜表面乳过氧化物酶介导的抗菌防御的活性。这个基因有两个可变剪接的转录变异体,它们编码相同的蛋白质。[由RefSeq,2012年7月提供]
Related ID:
NCBI:53905
ENSEMBL:ENSG00000137857
HGNC:3062
UNIPROT:Q9NRD9
OMIM:606758
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
53905
8
34
35581 bp
177.24
79
--
7
11
DUOX1 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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