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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
VIM - Vimentin
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
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References Literature
这个基因编码一种III型中间丝蛋白。中间丝,与微管和肌动蛋白微丝一起,构成了细胞骨架。编码的蛋白质负责维持细胞形状和细胞质的完整性,并稳定细胞骨架之间的相互作用。这种蛋白质参与神经元的形成和胆固醇运输,并作为许多其他涉及细胞附着、迁移和信号传导的关键蛋白质的组织者。已经表明,细菌和病毒病原体附着到宿主细胞表面的这个蛋白质上。这个基因的突变与人类患者的先天性白内障有关。[RefSeq,2017年8月提供]
Related ID:
NCBI:7431
ENSEMBL:ENSG00000026025
HGNC:12692
UNIPROT:P08670
OMIM:193060
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
7431
1
10
9353 bp
53.65
85
2
9
61
VIM Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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