Aliases for FGD4 Gene
External Ids for FGD4 Gene
Previous GeneCards Identifiers for FGD4 Gene
This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology domain and one of its pleckstrin homology domains, can form microspikes. This protein can activate MAPK8 independently of the actin filament-binding domain, and it is also involved in the activation of CDC42 via the exchange of bound GDP for free GTP. The activation of CDC42 also enables this protein to play a role in mediating the cellular invasion of Cryptosporidium parvum, an intracellular parasite that infects the gastrointestinal tract. Mutations in this gene can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
GeneCards Summary for FGD4 Gene
FGD4 (FYVE, RhoGEF And PH Domain Containing 4) is a Protein Coding gene. Diseases associated with FGD4 include Charcot-Marie-Tooth Disease, Type 4H and Charcot-Marie-Tooth Neuropathy Type 4. Among its related pathways are p75 NTR receptor-mediated signalling and Signaling by GPCR. GO annotations related to this gene include actin binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is FGD1.
UniProtKB/Swiss-Prot for FGD4 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. Activates MAPK8 (By similarity).