Official Full Name
FYVE, RhoGEF and PH domain containing 4
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.
FGD4; FYVE, RhoGEF and PH domain containing 4; FGD1 family, member 4; FYVE, RhoGEF and PH domain-containing protein 4; CMT4H; frabin; FRABP; ZFYVE6; FGD1-related F-actin-binding protein; actin-filament binding protein frabin; zinc finger FYVE domain-conta