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中文人类
SCN1A - Sodium Voltage-gated Channel Alpha Subunit 1
Alias:
DEE6
DRVT
FEB3
FHM3
NAC1
SCN1
SMEI
DEE6A
DEE6B
EIEE6
FEB3A
HBSCI
GEFSP2
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电压依赖性钠通道是由异质性复合物构成的，它们调节细胞内和细胞外空间之间的钠交换，并对肌肉细胞和神经元中动作电位的产生和传播至关重要。每个钠通道由一个大孔形成、糖基化的α亚基和两个较小的β亚基组成。此基因编码一个钠通道α亚基，它有四个同源域，每个域都包含六个跨膜区。此基因的等位变异与泛发性癫痫伴热性惊厥和癫痫性脑病有关。替代剪接产生多个转录变体。RefSeq项目决定创建四个代表性的RefSeq记录。三个转录变体由实验证据支持，而第四个包含替代的5'未翻译外显子，其确切组合尚未通过实验证实为全长转录本。[由RefSeq提供，2015年10月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SCN1A Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
