MSR1 Chromosome 8

Macrophage scavenger receptor 1
9 variants 9 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
"CD molecules|Scavenger receptors|Scavenger receptor cysteine rich domain containing"
Locus Type
gene with protein product
Location
8p22
Ensembl
ENSG00000038945
Associated Conditions (7)
Ovarian cancer
Prostate cancer
Hereditary cancer-predisposing syndrome
X-linked Alport syndrome
Barrett esophagus
MSR1-related disorder
BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA
Key Variants
All Variants (9)
RSID Category Clinical Significance Conditions
RS201351339 Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Ovarian cancer
RS41341748 Health Risk Conflicting classifications of pathogenicity Prostate cancer, Hereditary cancer-predisposing syndrome, X-linked Alport syndrome
RS1205685022 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS35175081 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS753739746 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS766853465 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS772978107 Health Risk Likely pathogenic
RS1554466908 Health Risk Pathogenic
RS387906645 Health Risk Pathogenic BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA, BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA
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