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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
小鼠
Scn1b - sodium channel, voltage-gated, type I, beta
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
钠通道抑制剂活性并参与心肌细胞动作电位的相关电压门控钠通道活动。涉及几个过程,包括心肌细胞动作电位期间的膜去极化;调节心室心肌细胞膜的重极化;以及钠离子跨膜运输。在皮质脊髓神经元轴突引导的上游或内部发挥作用;神经元动作电位传播;以及神经元投射发育的正调控。位于T管;内插盘;和朗维埃结节。是钠通道复合物的一部分。在心表达。用于研究普遍性癫痫伴热性惊厥加号。这个基因的人类同源物涉及布鲁加达综合征5;发育性和癫痫性脑病52;家族性心房颤动;和普遍性癫痫伴热性惊厥加号1。与人类SCN1B(钠电压门控通道β亚基1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:20266
ENSEMBL:ENSMUSG00000019194
UNIPROT:P97952
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
20266
2
6
10488 bp
24.65
8
5
Scn1b Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Interactions
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Acting
Regulation
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Score
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Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
References Literature
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Year
IF
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