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中文人类
STUB1 - STIP1 Homology And U-box Containing Protein 1
Alias:
CHIP
SCA48
UBOX1
SCAR16
HSPABP2
NY-CO-7
SDCCAG7
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这个基因编码一个含有四肽重复序列和U-box的蛋白质，作为泛素连接酶/伴分子发挥作用。编码的蛋白质结合并泛素化震颤同源的71kDa蛋白质（Hspa8）和DNA聚合酶β（Polb），以及其他靶点。这个基因的突变导致脊髓小脑共济失调，常染色体隐性16型。替代剪接产生多个转录变异体。这个基因在染色体2上有一个假基因。[由RefSeq，2014年6月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
STUB1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
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Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Abundance
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Cell-specific RNA expression
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References Literature
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