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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
小鼠
Gemin2 - gem nuclear organelle associated protein 2
Alias:
Sip1
gemin-2
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
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这个基因编码在运动神经元生存(SMN)复合物中发现的一种蛋白质,该复合物由SMN蛋白和几种gemin蛋白组成。SMN复合物定位到一个称为gemini的亚核腔室,并参与剪接体小核核糖蛋白(snRNP)的组装和前mRNA剪接。这个蛋白直接与SMN蛋白相互作用,并且对于SMN复合物的形成是必需的。在小鼠中破坏这个基因导致snRNP组装受损和运动神经元退化。[RefSeq,2015年9月提供]
Related ID:
NCBI:66603
ENSEMBL:ENSMUSG00000060121
UNIPROT:Q9CQQ4
Basic Information
NCBI
Transcripts
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Length
MW (kDa)
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66603
1
10
15080 bp
30.44
2
1
Gemin2 Genetics information (+)
GRCm39
Sequence Homology
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* This data comes from NCBI.
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