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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
大鼠
Scn2a - sodium voltage-gated channel alpha subunit 2
Alias:
SCN
ScpII
NachII
Nav1.2
Scn2a1
Scn2a2
RII/RIIA
RNSCPIIR
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
电压门控钠通道是跨膜糖蛋白复合物,由一个大型α亚基组成,具有四个重复结构域,每个结构域由六个跨膜区段组成,以及一个或多个调节性β亚基。电压门控钠通道负责神经元和平肌细胞中动作电位的产生和传播。该基因编码钠通道α亚基基因家族的一个成员。在人类中,该基因的变异与癫痫发作和自闭症谱系障碍相关。小鼠中具有敲除突变纯合子的死亡是由于严重的低氧和广泛的神经元细胞死亡,而功能获得突变导致进行性癫痫发作。[由RefSeq,2016年11月提供]
Related ID:
NCBI:24766
ENSEMBL:ENSRNOG00000005018
UNIPROT:P04775
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
24766
3
27
134724 bp
227.87
15
17
Scn2a Genetics information (+)
mRatBN7.2
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
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* 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
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IF
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