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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
MSR1 - Macrophage Scavenger Receptor 1
Alias:
SRA
SR-A
CD204
SR-AI
phSR1
phSR2
SCARA1
SR-AII
SR-AIII
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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A类巨噬细胞清道夫受体,包括三种不同类型的受体(1、2、3),通过这个基因的可变剪接产生。这些受体或异构体是巨噬细胞特异性的三聚体整合膜糖蛋白,与许多巨噬细胞相关的生理和病理过程有关,包括动脉粥样硬化、阿尔茨海默病和宿主防御。类型1和类型2的异构体是功能性的受体,能够介导修饰的低密度脂蛋白(LDLs)的内吞作用。尽管类型3异构体具有在类型1和类型2异构体中介导这一功能的结构域,但它不能内化修饰的LDL(乙酰-LDL)。它具有改变的细胞内加工过程,并被困在内质网中,使其无法执行内吞作用。当类型3异构体与类型1和类型2异构体共同表达时,它可以抑制它们的功能,表明具有显性负作用,并提出了一种调节巨噬细胞中清道夫受体活性的机制。[由RefSeq,2008年7月提供]
Related ID:
NCBI:4481
ENSEMBL:ENSG00000038945
HGNC:7376
UNIPROT:P21757
OMIM:153622
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4481
5
10
84771 bp
49.76
56
2
5
11
MSR1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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