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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
SRP72 - Signal Recognition Particle 72
Alias:
BMFF
BMFS1
HEL103
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码信号识别颗粒(SRP)的72kDa亚基,信号识别颗粒是一种将分泌蛋白质靶向内质网的核糖核蛋白复合物。SRP复合物由7S RNA和6个蛋白质亚基组成:SRP9、SRP14、SRP19、SRP54、SRP68和SRP72,它们以单体或异源二聚体的形式结合到7S RNA上。SRP具有至少3个与蛋白质亚基相关的独特功能:信号识别、翻译停止和通过与对接蛋白相互作用靶向内质网膜。这个基因的突变与家族性骨髓衰竭有关。已经发现这个基因的不同剪接转录变异体编码不同的异构体。[RefSeq,2012年6月提供]
Related ID:
NCBI:6731
ENSEMBL:ENSG00000174780
HGNC:11303
UNIPROT:O76094
OMIM:602122
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6731
3
19
36065 bp
74.61
442
1
3
21
SRP72 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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Status
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Link
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