YWHAG is part of a family of proteins called 14-3-3 γ. YWHAG is involved in communication within cells, as well as cell survival and death.
The gene was first identified as being associated with epilepsy in 2010. Variants in YWHAG can be found using various forms of genetic testing including targeting sequencing or whole exome/ genome sequencing. Most of the variants that have been found to date are a change in a single letter in the DNA instructions; these variants are called missense substitutions. Only one other type of variant has been identified, and it causes a shortening of the DNA instructions, called a truncating stop variant.
One of the most well documented variants is p.R132C which has been seen in 5 individuals and appears to be more severe. The p.Y133S variant has been seen in two individuals. The variants make it harder for the proteins to work together and interact.
There has not yet been a lot of work on the protein encoded by YWHAG, however work has been done in mice which has connected the YWHAG gene to epilepsy.
YWHAG