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中文人类
SCN4A - Sodium Voltage-gated Channel Alpha Subunit 4
Alias:
HYPP
SkM1
CMS16
HYKPP
NAC1A
HOKPP2
Nav1.4
Na(V)1.4
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电压门控钠通道是跨膜糖蛋白复合物，由具有24个跨膜结构域的大型α亚基和一个或多个调节性β亚基组成。它们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。它表达于骨骼肌中，该基因的突变与几种肌强直和周期性瘫痪疾病有关。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SCN4A 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
