Gene: MEGF10

Alternate names for this Gene: EMARDD|SR-F3

Gene Summary: This gene encodes a member of the multiple epidermal growth factor-like domains protein family. The encoded protein plays a role in cell adhesion, motility and proliferation, and is a critical mediator of apoptotic cell phagocytosis as well as amyloid-beta peptide uptake in the brain. Expression of this gene may be associated with schizophrenia, and mutations in this gene are a cause of early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) as well as congenital myopathy with minicores. Alternatively spliced transcript variants have been observed for this gene.

Gene is located in Chromosome: 5

Location in Chromosome : 5q23.2

Description of this Gene: multiple EGF like domains 10

Type of Gene: protein-coding

rs143954261 in MEGF10 gene and Alzheimer's Disease PMID 23535033 2014 Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.

rs1561599823 in MEGF10 gene and MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET PMID 23954233 2013 Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy.

PMID 22101682 2011 Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).

PMID 22371254 2012 Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.

PMID 23453856 2013 Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).

PMID 28498977 2017 Consequences of MEGF10 deficiency on myoblast function and Notch1 interactions.

PMID 27170117 2016 Megf10 Is a Receptor for C1Q That Mediates Clearance of Apoptotic Cells by Astrocytes.

rs72790443 in MEGF10 gene and Schizophrenia PMID 29503163 2018 Five novel loci associated with antipsychotic treatment response in patients with schizophrenia: a genome-wide association study.