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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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CACNB4 - Calcium Voltage-gated Channel Auxiliary Subunit Beta 4
Alias:
EA5
EJM
CAB4
EIG9
EJM4
EJM6
CACNLB4
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码电压依赖性钙通道复合蛋白的β亚基家族成员。钙通道在膜极化后调节钙离子流入细胞,并由1:1:1:1比例的α-1、α-2/δ、β和γ亚基组成。每个亚基都有各种版本,由相似的基因表达或通过可选的剪接产生。这个基因编码的蛋白质通过调节G蛋白抑制、增加钙离子峰值电流、控制α-1亚基的膜定位以及调整激活和失活的电压依赖性,在钙通道功能中扮演重要角色。这个基因中的一些突变与特发性全面性癫痫(IGE)、青少年肌阵挛性癫痫(JME)和5型发作性共济失调有关。[RefSeq,2016年8月提供]
Related ID:
NCBI:785
ENSEMBL:ENSG00000182389
HGNC:1404
UNIPROT:O00305
OMIM:601949
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
785
23
14
266397 bp
58.17
300
3
7
10
CACNB4 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Name
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CAS Number
Status
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Link
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References Literature
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No Data Found!
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