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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
GPX3 - Glutathione Peroxidase 3
Alias:
GPx-P
GSHPx-3
GSHPx-P
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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属于谷胱甘肽过氧化物酶家族,该家族成员通过谷胱甘肽催化有机羟过氧化物和过氧化氢(H2O2)的还原,从而保护细胞免受氧化损伤。这个基因家族在脊椎动物中存在几种同工酶,它们的细胞定位和底物特异性各不相同。这个同工酶是分泌型的,并在血浆中大量存在。通过启动子高甲基化导致这个基因的表达下调已经在包括甲状腺癌、肝细胞癌和慢性髓性白血病在内的大量人类恶性肿瘤中观察到。这个同工酶也是一种硒蛋白,在其活性部位含有罕见的氨基酸硒代半胱氨酸(Sec)。Sec由UGA密码子编码,该密码子通常表示翻译终止。硒蛋白mRNA的3'UTR含有一个保守的茎环结构,称为Sec插入序列(SECIS)元素,该元素对于将UGA识别为Sec密码子而不是作为停止信号是必要的。已经发现这个基因的替代剪接转录变异体。[RefSeq,2016年7月提供]
Related ID:
NCBI:2878
ENSEMBL:ENSG00000211445
HGNC:4555
UNIPROT:P22352
OMIM:138321
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2878
2
5
8398 bp
25.55
10
--
11
7
GPX3 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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