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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
人类
CACNA1G - Calcium Voltage-gated Channel Subunit Alpha1 G
Alias:
NBR13
SCA42
Cav3.1
SCA42ND
Ca(V)T.1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
电压敏感钙通道介导钙离子进入可兴奋细胞,并涉及各种钙依赖过程,包括肌肉收缩、激素或神经递质释放、基因表达、细胞运动、细胞分裂和细胞死亡。这个基因编码一种T型、低电压激活的钙通道。T型通道产生的电流是短暂的,因为快速失活,并且很小,因为传导面积小。T型通道被认为与起搏器活动、低阈值钙尖峰、神经振荡和共振以及反弹爆发发射有关。已经描述了这个基因的许多替代剪接转录变异体,它们编码不同的异构体。[由RefSeq,2011年9月提供]
Related ID:
NCBI:8913
ENSEMBL:ENSG00000006283
HGNC:1394
UNIPROT:O43497
OMIM:604065
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8913
30
38
66760 bp
262.47
816
2
11
13
CACNA1G Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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CDS(bp)
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Length(aa)
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* 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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