MSR1
Homo sapiens
Gene Name: macrophage scavenger receptor 1
Aliases: CD204, SCARA1, SR-A, SRA, phSR1, phSR2
Chromosome No: 8
Chromosome Band: 8p22
Genetic Category: Rare Single Gene variant
Aliases: CD204, SCARA1, SR-A, SRA, phSR1, phSR2
Chromosome No: 8
Chromosome Band: 8p22
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 15
Evidence score: 2
ASD Reports: 5
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 15
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Rare deletions in the MSR1 gene have been identified in individuals with ASD (ORoak et al., 2012).
Molecular Function
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. These receptors mediate the endocytosis of a diverse group of macromolecules, including modified low density lipoproteins (LDL). Isoform III does not internalize actetylated LDL.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Positive Association
Genome-wide Burden of Rare Short Deletions Is Enriched in Major Depressive Disorder in Four Cohorts.
MDD
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Support
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN335C001
copy_number_loss
5,780 MDD cases and 6,626 controls from four cohorts
Discovery
