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中文人类
CACNA1C - Calcium Voltage-gated Channel Subunit Alpha1 C
Alias:
TS
LQT8
CACH2
CACN2
CaV1.2
CCHL1A1
NEDHLSS
CACNL1A1
TS. LQT8
CACNA1C-IT2
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这个基因编码一个电压依赖性钙通道的α1亚基。钙通道在膜极化时调节钙离子进入细胞。α1亚基由24个跨膜区段组成，形成离子通过的孔道。钙通道由1:1:1:1比例的α1、α2/δ、β和γ亚基组成。这些蛋白质的每个异构体都有不同的基因编码或通过转录本的可选剪接产生。这个基因编码的蛋白质与二氢吡啶结合并被其抑制。可选剪接产生许多编码不同蛋白质的转录变异体。一些预测的蛋白质可能不会产生功能的离子通道亚基。[RefSeq,2012年10月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CACNA1C 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
