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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
SEPHS2 - Selenophosphate Synthetase 2
Alias:
SPS2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种酶,该酶催化从硒化物和ATP产生单硒磷酸盐(MSP)。MSP是合成硒半胱氨酸(Sec)所需的硒供体,硒半胱氨酸是在读码框内UGA密码子上共翻译地结合到硒蛋白质中,该密码子通常作为翻译终止信号。硒蛋白质mRNA的3'UTR含有保守的茎环结构,即Sec插入序列(SECIS)元素,该元素对于识别UGA作为Sec密码子而不是作为停止信号是必要的。该蛋白质本身是一种含有Sec残基的硒蛋白质,位于其活性部位,暗示存在一种自调节机制。它优先在参与硒蛋白质合成的组织中和血细胞发育部位表达。已经在这个位置的一个假基因在染色体5上被鉴定。[由RefSeq,2017年5月提供]
Related ID:
NCBI:22928
ENSEMBL:ENSG00000179918
HGNC:19686
UNIPROT:Q99611
OMIM:606218
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
22928
1
1
2244 bp
47.30
12
--
3
7
SEPHS2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Cell-specific RNA expression
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Name
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Status
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References Literature
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