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中文人类
SCN5A - Sodium Voltage-gated Channel Alpha Subunit 5
Alias:
HB1
HB2
HH1
IVF
VF1
HBBD
ICCD
LQT3
SSS1
CDCD2
CMD1E
CMPD2
PFHB1
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这个基因编码的蛋白质是一个整合膜蛋白，是河豚毒素耐受的电压门控钠通道亚基。这种蛋白质主要存在于心肌中，负责心电图动作电位的初始上升。这个基因的缺陷与长QT综合症3型（LQT3）、心房颤动、心肌病和布格达综合症1有关，这些都是常染色体显性心脏病。交替剪接导致几个转录变异体，编码不同的异构体。[由RefSeq提供，2022年5月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SCN5A 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
