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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
MTOR - Mechanistic Target Of Rapamycin Kinase
Alias:
SKS
FRAP
FRAP1
FRAP2
RAFT1
RAPT1
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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一个与磷脂酰肌醇激酶相关的激酶家族。这些激酶介导细胞对DNA损伤和营养剥夺等压力的反应。这种激酶是两个不同复合物的组成部分,即调控蛋白质合成、细胞生长和增殖的mTORC1,以及调控肌动蛋白细胞骨架并促进细胞存活和细胞周期进展的mTORC2。这种蛋白质作为FKBP12-rapamycin复合物细胞周期停滞和免疫抑制作用的目标。mTOR抑制剂在器官移植中用作免疫抑制剂,并正在评估其在SARS-CoV-2感染中的治疗潜力。这种基因的突变与Smith-Kingsmore综合征和体细胞局部皮质发育障碍II型有关。ANGPTL7基因位于这个基因的一个内含子中。[由RefSeq提供,2020年8月]
Related ID:
NCBI:2475
ENSEMBL:ENSG00000198793
HGNC:3942
UNIPROT:P42345
OMIM:601231
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2475
7
58
156017 bp
288.89
2077
8
24
105
MTOR Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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No data available
Transcripts & Proteins
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#
Transcript
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* This data comes from NCBI.
Gene Expression
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Type
Name
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CAS Number
Status
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Link
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References Literature
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