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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
CACNA2D3 - Calcium Voltage-gated Channel Auxiliary Subunit Alpha2delta 3
Alias:
HSA272268
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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α-2/δ亚基家族的一员,这是一个电压依赖性钙通道复合物中的蛋白质。钙通道在膜极化后调节钙离子流入细胞,并由1:1:1比例的α-1、α-2/δ、β和γ亚基组成复杂。每个亚基的各种版本由相似的基因表达或通过可选的剪接产生。对兔子的一个非常相似的蛋白质的研究表明,此记录中描述的蛋白质被切割成α-2和δ亚基。已经观察到了这个基因的替代转录剪接变异体,但尚未进行彻底的研究。[RefSeq,2008年7月提供]
Related ID:
NCBI:55799
ENSEMBL:ENSG00000157445
HGNC:15460
UNIPROT:Q8IZS8
OMIM:606399
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55799
1
38
952006 bp
123.01
74
--
7
4
CACNA2D3 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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References Literature
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