菜单 基因医生

该基因编码a类巨噬细胞清道夫受体,包括由该基因选择性剪接产生的三种不同类型(1、2、3)。这些受体或亚型是巨噬细胞特异的三聚体膜糖蛋白,参与了许多与巨噬细胞相关的生理和病理过程,包括动脉粥样硬化、阿尔茨海默病和宿主防御。1型和2型亚型是功能性受体,能介导修饰低密度脂蛋白(ldl)的内吞。尽管在1型和2型亚型中显示有介导这一功能的结构域,但3型亚型不内化修饰的低密度脂蛋白(乙酰低密度脂蛋白)。它有一个改变的细胞内处理,并被困在内质网,使它无法执行内吞。3型亚型在共表达时能抑制1型和2型亚型的功能,表明其具有显性的负效应,并提示巨噬细胞清道夫受体活性的调节机制。[由RefSeq提供,2008年7月]
This gene encodes the class A macrophage scavenger receptors, which include three different types (1, 2, 3) generated by alternative splicing of this gene. These receptors or isoforms are macrophage-specific trimeric integral membrane glycoproteins and have been implicated in many macrophage-associated physiological and pathological processes including atherosclerosis, Alzheimer's disease, and host defense. The isoforms type 1 and type 2 are functional receptors and are able to mediate the endocytosis of modified low density lipoproteins (LDLs). The isoform type 3 does not internalize modified LDL (acetyl-LDL) despite having the domain shown to mediate this function in the types 1 and 2 isoforms. It has an altered intracellular processing and is trapped within the endoplasmic reticulum, making it unable to perform endocytosis. The isoform type 3 can inhibit the function of isoforms type 1 and type 2 when co-expressed, indicating a dominant negative effect and suggesting a mechanism for regulation of scavenger receptor activity in macrophages. [provided by RefSeq, Jul 2008]

基因名:MSR1
别名:SRA,SR-A,CD204,SR-AI,phSR1,phSR2,SCARA1,SR-AII,SR-AIII
基因ID:4481
Chromosome:
(GRCh37)
8 Start: 15965387 End: 16050300 Strand: 
信号通路:  
MSR1 基因突变与药物