MSR1

Chr 8

macrophage scavenger receptor 1

Also known as: CD204, SCARA1, SR-A, SR-AI, SR-AII, SR-AIII, SRA, phSR1

NCBI Gene: 4481 ENSG00000038945 UniProt: P21757

This gene encodes class A macrophage scavenger receptors that mediate endocytosis of modified low-density lipoproteins and other macromolecules in macrophages. Mutations are associated with Barrett esophagus and esophageal adenocarcinoma with autosomal dominant inheritance. The gene shows low constraint to loss-of-function variants, suggesting haploinsufficiency may not be the primary disease mechanism.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…