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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
人类
SCN7A - Sodium Voltage-gated Channel Alpha Subunit 7
Alias:
NaG
SCN6A
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码了许多电压门控钠通道蛋白之一。对于动作电位期间神经元和肌肉的正常功能,电压门控钠通道引导钠离子扩散以膜去极化。这种钠通道蛋白具有一些不寻常的特性;与其他同源钠通道对相比,人类和小鼠蛋白质之间的相似性较低。此外,检测电压变化的S4段具有比其他钠通道更少的正电荷残基;与其他钠通道蛋白相比,域4具有更少的精氨酸和赖氨酸残基。存在几种可变剪接转录变体,但所有转录变体的全长性质仍未知。[由RefSeq提供,2011年12月]
Related ID:
NCBI:6332
ENSEMBL:ENSG00000136546
HGNC:10594
UNIPROT:Q01118
OMIM:182392
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6332
8
26
90677 bp
193.49
111
--
5
3
SCN7A Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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#
Transcript
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Length(aa)
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* This data comes from NCBI.
Gene Expression
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Name
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Status
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References Literature
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