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中文人类
SCN1B - Sodium Voltage-gated Channel Beta Subunit 1
Alias:
DEE52
ATFB13
BRGDA5
EIEE52
GEFSP1
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电压门控钠通道是异源二聚体蛋白，在肌肉和神经细胞的动作电位产生和传播中发挥作用。它们由一个α亚基和两个β亚基组成，其中α亚基提供通道活性，而β1亚基调节通道失活的动力学。该基因编码一个钠通道β1亚基。该基因的突变导致泛化癫痫伴热性惊厥加症、布格达综合征5和心脏传导缺陷。已发现该基因有多种转录变异体，编码不同的异构体。[RefSeq，2009年10月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SCN1B 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
