FYVE, RhoGEF and PH domain containing 1
The FGD1 gene provides instructions for making a protein known as a guanine nucleotide exchange factor (GEF). GEFs turn on (activate) proteins called GTPases, which play an important role in chemical signaling within cells. GTPases are turned off (inactivated) when they are attached (bound) to a molecule called GDP and are activated when they are bound to another molecule called GTP. The FGD1 protein activates the GTPase known as Cdc42 by stimulating the exchange of GDP for GTP. Once Cdc42 is active, it transmits signals that are critical for various aspects of embryonic development, particularly formation of the skeleton.
Approximately 20 mutations in the FGD1 gene have been found to cause Aarskog-Scott syndrome. These mutations lead to the production of an abnormally functioning protein, which disrupts Cdc42 signaling. Altering the transmission of Cdc42 signals results in the wide variety of developmental abnormalities seen in Aarskog-Scott syndrome.
- faciogenital dysplasia protein