Aliases for FGD1 Gene
External Ids for FGD1 Gene
Previous HGNC Symbols for FGD1 Gene
Previous GeneCards Identifiers for FGD1 Gene
This gene encodes a protein that contains Dbl (DH) and pleckstrin (PH) homology domains and is similar to the Rho family of small GTP-binding proteins. The encoded protein specifically binds to the Rho family GTPase Cdc42Hs and can stimulate the GDP-GTP exchange of the isoprenylated form of Cdc42Hs. It also stimulates the mitogen activated protein kinase cascade leading to c-Jun kinase SAPK/JNK1 activation. Defects in this gene are the cause of the faciogenital dysplasia in Aarskog-Scott syndrome and a syndromatic form of X-linked cognitive disability. [provided by RefSeq, Jul 2017]
GeneCards Summary for FGD1 Gene
FGD1 (FYVE, RhoGEF And PH Domain Containing 1) is a Protein Coding gene. Diseases associated with FGD1 include Aarskog-Scott Syndrome and Scott Syndrome. Among its related pathways are p75 NTR receptor-mediated signalling and Regulation of CDC42 activity. Gene Ontology (GO) annotations related to this gene include guanyl-nucleotide exchange factor activity and small GTPase binding. An important paralog of this gene is FGD4.
UniProtKB/Swiss-Prot for FGD1 Gene
Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape.