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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
TSG101 - Tumor Susceptibility 101
Alias:
TSG10
VPS23
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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属于泛素结合酶的似乎无活性的同系物组。基因产物包含与细胞质磷酸蛋白 stathmin 相互作用的螺旋卷域,stathmin 与肿瘤发生有关。该蛋白质可能在细胞生长和分化中发挥作用,并作为负生长调节剂。在体外,这个肿瘤易感基因的稳态表达对于维持基因组稳定性和细胞周期调节可能很重要。这个基因中的突变和替代剪接在乳腺癌中高频发生,提示在乳腺癌发生和/或进展过程中存在缺陷。[由 RefSeq,2008 年 7 月提供]
Related ID:
NCBI:7251
ENSEMBL:ENSG00000074319
HGNC:15971
UNIPROT:Q99816
OMIM:601387
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7251
2
10
46632 bp
43.94
10
--
6
47
TSG101 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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