Aliases: EMARDD
Chromosome No: 5
Chromosome Band: 5q23.2
Genetic Category: Genetic association-Rare single gene variant
ASD Reports: 8
Recent Reports: 0
Annotated variants: 9
Associated CNVs: 7
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
Three SNPs in the transcription regulatory region of the MEGF10 gene were found to associate with autism in a family-based association study of a Chinese Han cohort; one of these SNPs showed reduced protein binding activity in an electrophoretic mobility shift assay. Furthermore, the risk haplotype of these three SNPs was preferentially transmitted from parents to affected offspring and demonstrated reduced transcriptional activity in a luciferase reporter assay (Wu et al., 2017). MEGF10 has been shown to associate with schizophrenia in an Irish case-control study (Chen et al., 2008), but not in a Chinese case-control study (Yun et al., 2011).
Molecular Function
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. Mutations in this gene are a cause of early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) as well as congenital myopathy with minicores
External Links
