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中文人类
CACNA2D1 - Calcium Voltage-gated Channel Auxiliary Subunit Alpha2delta 1
Alias:
CACNA2
CCHL2A
DEE110
CACNL2A
LINC01112
lncRNA-N3
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这个基因编码的预前蛋白被切割成多个链，组成电压依赖性钙通道复合物的alpha-2和delta亚基。钙通道在膜极化时介导钙离子流入细胞。这个基因的突变可能导致心脏缺陷，包括Brugada综合征和短QT综合征。交替剪接产生多个转录变异体，其中一些可能缺乏delta亚基部分。[RefSeq，2014年11月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CACNA2D1 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
