After years of diagnostic wavering for many families, knowing the origin of disability is an essential step to move forward and not to feel alone.
The MED13L gene is located on the chromosome 12, location 12q24.21;
Anomaly in the gene can be a deletion, a copy number variant (CNV) or a change in the code
The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the brain and heart.