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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
VBP1 - VHL Binding Protein 1
Alias:
PFD3
PFDN3
VBP-1
HIBBJ46
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质与Von Hippel-Lindau蛋白质相互作用,形成细胞内复合物。编码的蛋白质作为分子伴侣蛋白质,可能参与Von Hippel-Lindau蛋白质从核周颗粒运输到细胞核或细胞质的过程。选择性剪接和交替转录起始位点的使用导致多个转录变异体,编码不同的蛋白质异构体。[由RefSeq,2015年1月提供]
Related ID:
NCBI:7411
ENSEMBL:ENSG00000155959
HGNC:12662
UNIPROT:P61758
OMIM:300133
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7411
4
6
42835 bp
22.63
4
--
3
12
VBP1 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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Name
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References Literature
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