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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
Scn1a - sodium channel, voltage-gated, type I, alpha
Alias:
Nav1.1
B230332M13
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
激活电压门控钠通道活性。参与检测机械刺激,涉及疼痛的感知和钠离子的运输。在几个过程的上游或内部发挥作用,包括成年行走行为;神经元动作电位;和神经元动作电位传播。位于几个细胞组件中,包括T管;Z盘;和主轴突。钠通道复合物的一部分。在大脑;心脏;坐骨神经;交感神经节;和端脑中表达。用于研究Dravet综合征;自闭症谱系障碍;和发热性惊厥附加的一般化癫痫。这个基因的人类同源物涉及Dravet综合征;发育性和惊厥脑病;家族性偏瘫性偏头痛3;发热性惊厥附加的一般化癫痫;和发热性惊厥附加的一般化癫痫2。与人类SCN1A(钠电压门控通道α亚基1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:20265
ENSEMBL:ENSMUSG00000064329
UNIPROT:A2APX8
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
20265
5
27
170057 bp
228.80
22
10
Scn1a Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Type
Name
MGI
Strain of Origin
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References Literature
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IF
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