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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
Scnn1b - sodium channel, nonvoltage-gated 1 beta
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
激活WW结构域结合活性及配体门控钠通道活性。参与钠通道活性。在几个过程的上游或内部发挥作用,包括细胞对醛固酮的反应;参与炎症反应的白细胞激活;以及一价无机阳离子内稳态。位于质膜外侧。是膜的整合成分。是质膜蛋白复合物和钠通道复合物的一部分。在几个结构中表达,包括主动脉;内分泌腺;泌尿生殖系统;肺;和胃。用于研究Liddle综合征;常染色体隐性假性低醛固酮症1型;和囊性纤维化。这个基因的人类同源物涉及Liddle综合征;常染色体隐性假性低醛固酮症1型;支气管扩张1型;和假性低醛固酮症。与人类SCNN1B(上皮钠通道1亚基β)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:20277
ENSEMBL:ENSMUSG00000030873
UNIPROT:Q9WU38
Basic Information
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Transcripts
Exons
Length
MW (kDa)
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Reference
20277
2
13
53691 bp
72.20
9
8
Scnn1b Genetics information (+)
GRCm39
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* This data comes from NCBI.
Gene Expression
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