FYVE, RhoGEF and PH domain-containing protein 1 (FGD1)

FYVE, RhoGEF and PH domain-containing protein 1 (FGD1) is a multidomain guanine nucleotide exchange factor (GEF) that specifically activates the Rho family GTPase Cdc42 by facilitating GDP-GTP exchange, thereby regulating actin cytoskeleton dynamics, cell shape, motility, and membrane trafficking. It contains Dbl (DH) and pleckstrin homology (PH) domains, as well as a FYVE-finger motif and zinc finger, responsible for membrane targeting and protein-protein interactions. FGD1 plays essential roles in bone growth and mineralization, cell polarity, and signal transduction involving c-Jun kinase as part of development and differentiation programs. Mutations in FGD1 cause X-linked faciogenital dysplasia (Aarskog-Scott syndrome), a disorder characterized by abnormal bone and genital development, and are associated with intellectual disability. Evidence also links FGD1 overexpression to increased invasiveness in certain cancers, including breast and prostate carcinoma, potentially through its regulation of actin-regulatory proteins and promotion of extracellular matrix degradation.

Other names

Faciogenital dysplasia 1 proteinFGDYZFYVE3Rho/Rac guanine nucleotide exchange factor FGD1Rho/Rac GEFZinc finger FYVE domain-containing protein 3AASMRXS16