Gene Symbol: Fgd4
Description: FYVE, RhoGEF and PH domain containing 4
Alias: 9030023J02Rik, 9330209B17Rik, Frabp, ZFYVE6, FYVE, RhoGEF and PH domain-containing protein 4, Fgd1-related F-actin-binding protein, actin filament-binding protein frabin
Kim Y, Ikeda W, Nakanishi H, Tanaka Y, Takekuni K, Itoh S, et al
. Association of frabin with specific actin and membrane structures. Genes Cells. 2002;7:413-20 pubmed
..It is likely that frabin associates with the specific actin and membrane structures and activates Cdc42 and Rac in the vicinity of these structures, eventually leading to morphological changes. ..
Ono Y, Nakanishi H, Nishimura M, Kakizaki M, Takahashi K, Miyahara M, et al
. Two actions of frabin: direct activation of Cdc42 and indirect activation of Rac. Oncogene. 2000;19:3050-8 pubmed
..The FYVE domain and the second PH domain in addition to the DH domain and the first PH domain are necessary for the lamellipodium-like structure formation. We show here these two actions of frabin in the regulation of cell morphology. ..
Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C, Boccaccio I, et al
. Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H. Am J Hum Genet. 2007;81:1-16 pubmed publisher
..We report here the identification of mutations in FGD4, encoding FGD4 or FRABIN (FGD1-related F-actin binding protein), in both families...
Stendel C, Roos A, Deconinck T, Pereira J, Castagner F, Niemann A, et al
. Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. Am J Hum Genet. 2007;81:158-64 pubmed
..Here, we report that disruption of frabin/FGD4, a GEF for the Rho GTPase cell-division cycle 42 (Cdc42), causes peripheral nerve demyelination in patients with ..
Dong H, Martin M, Colvin J, Ali Z, Wang L, Lu L, et al
. Quantitative trait loci linked to thalamus and cortex gray matter volumes in BXD recombinant inbred mice. Heredity (Edinb). 2007;99:62-9 pubmed
..71). These results suggest that there are separate and shared genetic influences on the development of the thalamus and cerebral cortex. ..
Obaishi H, Nakanishi H, Mandai K, Satoh K, Satoh A, Takahashi K, et al
. Frabin, a novel FGD1-related actin filament-binding protein capable of changing cell shape and activating c-Jun N-terminal kinase. J Biol Chem. 1998;273:18697-700 pubmed
..Because FGD1 has been shown to serve as a GDP/GTP exchange protein for Cdc42 small G protein, it is likely that frabin is a direct linker between Cdc42 and the actin cytoskeleton. ..
Ikeda W, Nakanishi H, Takekuni K, Itoh S, Takai Y. Identification of splicing variants of Frabin with partly different functions and tissue distribution. Biochem Biophys Res Commun. 2001;286:1066-72 pubmed
..As to lamellipodia, frabin-alpha formed them; frabin-beta formed them to a small extent; and frabin-gamma did not. In MDCK epithelial cells, frabin-alpha formed microspikes but frabin-beta or -gamma did not. ..
Horn M, Baumann R, Pereira J, Sidiropoulos P, Somandin C, Welzl H, et al
. Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells. Brain. 2012;135:3567-83 pubmed publisher
..Charcot-Marie-Tooth disease type 4H by constitutively disrupting the mouse orthologue of the suspected culprit gene FGD4 that encodes the small RhoGTPase Cdc42-guanine nucleotide exchange factor Frabin...
Ko H, Guo L, Su B, Gao L, Gelman I. Suppression of chemotaxis by SSeCKS via scaffolding of phosphoinositol phosphates and the recruitment of the Cdc42 GEF, Frabin, to the leading edge. PLoS ONE. 2014;9:e111534 pubmed publisher
..Cdc42-induced cellular dynamics at the leading chemotactic edge through the scaffolding of phospholipids and signal mediators, and through the reorganization of the actin cytoskeleton controlling directional movement. ..