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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
VCL - Vinculin
Alias:
MV
MVCL
CMD1W
CMH15
HEL114
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
Vinculin 是一种与细胞间和细胞基质连接相关的细胞骨架蛋白,被认为在将 F-肌动蛋白锚定到膜上起到与几种相互作用蛋白的作用。VCL 中的缺陷是扩张型心肌病 1W 的原因。扩张型心肌病是一种以室扩张和收缩功能受损为特征的疾病,导致充血性心力衰竭和心律失常。已发现该基因有多个可变剪接转录变异体,但某些变异体的生物学有效性尚未确定。[由 RefSeq,2008 年 7 月提供]
Related ID:
NCBI:7414
ENSEMBL:ENSG00000035403
HGNC:12665
UNIPROT:P18206
OMIM:193065
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7414
2
22
123248 bp
123.80
1145
4
6
30
VCL 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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