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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
VCP - Valosin Containing Protein
Alias:
p97
TERA
CDC48
FTDALS6
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个属于AAA ATP酶家族的蛋白质成员。编码的蛋白质在蛋白质降解、细胞内膜融合、DNA修复和复制、细胞周期调节和NF-kappa B途径的激活中发挥作用。这个蛋白质形成一个六聚体复合物,与各种辅助因子相互作用,从脂质膜或蛋白质复合物中提取泛素化蛋白质。这个基因的突变导致IBMPFD(包含体肌病、骨Paget病和额颞部痴呆)、ALS(肌萎缩侧索硬化症)和人类患者的Charcot-Marie-Tooth病。[RefSeq,2017年8月提供]
Related ID:
NCBI:7415
ENSEMBL:ENSG00000165280
HGNC:12666
UNIPROT:P55072
OMIM:601023
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7415
3
17
16562 bp
89.32
527
13
12
87
VCP Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Alphabetical
Cell-specific RNA expression
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Type
Name
MGI
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No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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Journal
Year
IF
No Data Found!
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