| Modification Notes |
FGD1 gene mutations result in faciogenital dysplasia (FGDY, Aarskog-Scott syndrome), an X-linked developmental disorder that adversely affects the formation of multiple skeletal structures. FGD1 maps to human chromosome Xp11.21 and shares a high degree of sequence identity with the FGD2 (6p21.2) and the FGD3 (9q22.31) proteins. FGD1 encodes a guanine nucleotide exchange factor that specifically activates the Rho GTPase Cdc42. FGD2 is present in several diverse tissues during embryogenesis, suggesting a role in embryonic development. FGD3 stimulates fibroblasts to form filopodia, which are Actin microspikes formed upon the stimulation of Cdc42. All FGD family members contain equivalent signaling domains and a conserved structural organization, which strongly suggests that these signaling domains form a canonical core structure for members of the FGD family of RhoGEF proteins. These proteins control essential signals required during embryonic development. |
