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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
TLR4 - Toll Like Receptor 4
Alias:
TOLL
CD284
TLR-4
ARMD10
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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是Toll样受体(TLR)家族的一员,它在病原体的识别和先天免疫激活中起着基本作用。TLRs从果蝇到人类高度保守,并在结构和功能上相似。它们识别感染性生物上表达的病原体相关分子模式,并调节产生有效免疫发展所需的细胞因子。各种TLR表现出不同的表达模式。在体外的研究中已经发现,TLR4与严重急性呼吸综合症冠状病毒2的棘蛋白(SARS-CoV-2)有很强的结合能力,SARS-CoV-2是2019年冠状病毒病(COVID-19)的病原体。这个受体也与由大多数阴性细菌中存在的脂多糖(LPS)引起的信号传导事件有关。这个基因的突变与LPS反应性的差异和年龄相关性黄斑变性易感性有关。已经发现这个基因有多个编码不同异型的转录变异体。[RefSeq,2020年8月提供]
Related ID:
NCBI:7099
ENSEMBL:ENSG00000136869
HGNC:11850
UNIPROT:O00206
OMIM:603030
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
7099
3
3
20333 bp
95.68
42
2
28
44
TLR4 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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