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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
TSC2 - TSC Complex Subunit 2
Alias:
LAM
TSC4
PPP1R160
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是一个肿瘤抑制基因,编码生长抑制蛋白tuberin。Tuberin与hamartin相互作用形成TSC蛋白复合物,该复合物在控制细胞生长中发挥作用。这个TSC蛋白复合物负调控哺乳动物雷帕霉素靶标1(mTORC1)信号通路,该信号通路是合成代谢细胞生长的主要调节因子。这个基因的突变与结节性硬化症和淋巴管平滑肌瘤病有关。[由RefSeq提供,2022年5月]
Related ID:
NCBI:7249
ENSEMBL:ENSG00000103197
HGNC:12363
UNIPROT:P49815
OMIM:191092
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7249
47
42
41507 bp
200.61
9437
14
18
64
TSC2 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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