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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
Scn5a - sodium channel, voltage-gated, type V, alpha
Alias:
mH1
SkM1
SkM2
Nav1.5
Nav1.5c
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
使骨架蛋白结合活性得以实现,并参与SA节点细胞动作电位的相关电压门控钠通道活性。在几个过程的上游或内部发挥作用,包括与收缩相关的心肌细胞动作电位;心脏收缩的调节;以及钠离子穿过质膜的导入。位于几个细胞组件中,包括T-管;内嵌式盘;和侧向质膜。钠通道复合物的一部分。在几个结构中表达,包括颅神经节;表皮;心脏;感觉器官;和骨架。用于研究Brugada综合征1;扩张型心肌病1E;长QT综合征3;进行性家族性心脏阻滞型IA;和病态窦房结综合征。该基因的人类同源物与心脏传导疾病(多种);本质心肌病(多种);和突然婴儿死亡综合症有关。与人类SCN5A(钠电压门控通道α亚基5)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:20271
ENSEMBL:ENSMUSG00000032511
UNIPROT:Q9JJV9
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
20271
6
27
95627 bp
227.58
23
15
Scn5a Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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