Predicted to enable actin filament binding activity and guanyl-nucleotide exchange factor activity. Acts upstream of or within lamellipodium assembly and microspike assembly. Located in filopodium and lamellipodium. Is expressed in hand; nervous system; pancreas; and sensory organ. Used to study Charcot-Marie-Tooth disease type 4H. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4H. Orthologous to human FGD4 (FYVE, RhoGEF and PH domain containing 4).
MGI Description
PHENOTYPE: Mice homozygous for a knock-out allele display dysmyelination in early peripheral nerve development, followed by severe myelin abnormalities, demyelinationn, nervous system electrophysiological deficits, and decreased grip strength at later stages. [provided by MGI curators]