Aliases: MGBL, MYCD
Chromosome No: 17
Chromosome Band: 17p12
Genetic Category: Rare single gene variant
ASD Reports: 3
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 7
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
Genome-wide investigation of tandem repeats in 17,231 genomes of families with autism from the Autism Speaks MSSNG project and the Simons Simplex Collection in Trost et al., 2020 identified a rare tandem repeat expansion in the MYOCD gene (chr17:12693129-12694105 (AAAAT)) in six unrelated ASD probands. This tandem repeat in MYOCD was observed in more than 0.1% of ASD-affected individuals in this cohort and had a frequency 0.1% in unaffected siblings, 1000 Genomes, and 1,612 additional population controls from GTEx and the Mayo Clinic Biobank.
Molecular Function
This gene encodes a nuclear protein, which is expressed in heart, aorta, and in smooth muscle cell-containing tissues. It functions as a transcriptional co-activator of serum response factor (SRF) and modulates expression of cardiac and smooth muscle-specific SRF-target genes, and thus may play a crucial role in cardiogenesis and differentiation of the smooth muscle cell lineage.
External Links
