SRCAP

Molecular characteristics

The SRCAP gene has different parts, and changes in specific parts of the gene can cause different problems. Changes in parts of the gene called exons 33 and 34 are known to cause FLHS. But when changes happen in other parts of the gene, away from the FLHS-related area, they cause DEHMBA or a related condition that is not FLHS. It's important to note that missense variants (a type of genetic change) in the SRCAP gene have not been proven to cause DEHMBA. We need more research to confirm this.