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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
UBXN8 - UBX Domain Protein 8
Alias:
REP8
UBXD6
D8S2298E
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
p97或VCP(含valosin蛋白)是一种多功能的ATP酶复合物,许多辅助因子对于p97的功能多样性是必需的。该基因编码p97的一个辅助因子。这个辅助因子是一个跨膜蛋白,定位在内质网(ER)膜上。它通过其UBX结构域将p97固定在内质网膜上。这个辅助因子与p97的结合有助于高效地降解错误折叠的蛋白质。已经发现这个基因的不同剪接转录变异体,它们编码不同的异构体。[RefSeq,2013年8月提供]
Related ID:
NCBI:7993
ENSEMBL:ENSG00000104691
HGNC:30307
UNIPROT:O00124
OMIM:602155
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7993
4
8
37872 bp
30.54
11
--
2
5
UBXN8 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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Mutations
No data available
Transcripts & Proteins
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Transcript
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Protein
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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References Literature
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