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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
Ighmbp2 - immunoglobulin mu DNA binding protein 2
Alias:
AEP
nmd
sma
Catf1
Smbp2
Smbp-2
Smubp2
RIPE3b1
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有富G单链DNA结合活性和核糖体结合活性。在RNA聚合酶II的转录负调控的上游或内部发挥作用;神经肌肉过程;以及脊髓运动神经元分化。位于几个细胞组件中,包括生长锥;神经细胞体;和细胞核周围的细胞质区域。核糖核酸蛋白复合物的一部分。在几个结构中表达,包括生殖系统;心脏;肝脏;肺;和神经系统。用于研究远端脊髓肌营养不良1。这个基因的人类同源物与Charcot-Marie-Tooth疾病轴突型2S和远端脊髓肌营养不良1有关。与人类IGHMBP2(免疫球蛋白mu DNA结合蛋白2)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:20589
ENSEMBL:ENSMUSG00000024831
UNIPROT:P40694
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
20589
2
15
23936 bp
Unknown
8
2
Ighmbp2 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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Transcript
Length(nt)
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Protein
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* This data comes from NCBI.
Gene Expression
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Name
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