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中文人类
TSC1 - TSC Complex Subunit 1
Alias:
LAM
TSC
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这个基因是一个肿瘤抑制基因，编码生长抑制蛋白hamartin。编码的蛋白质与GTP酶激活蛋白tuberin相互作用并稳定其结构。这个hamartin-tuberin复合物负调控哺乳动物雷帕霉素靶点1（mTORC1）信号通路，该通路是合成代谢细胞生长的主要调节因子。这个蛋白质还作为Hsp90的协同伴侣，抑制其ATP酶活性。这个蛋白质作为Hsp90介导的折叠酶和包括TSC2在内的非折叠酶客户的促进剂，从而防止它们的泛素化和蛋白酶体降解。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。[RefSeq提供，2022年5月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
TSC1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
