Invitrogen™ FGD4 Polyclonal Antibody

The FGD4 gene, also known as FYVE, RhoGEF, and PH domain-containing protein 4, is located on chromosome 12p11.21. This gene encodes a protein involved in the regulation of the actin cytoskeleton and is crucial for cellular processes such as migration and adhesion. FGD4 is specifically associated with Charcot-Marie-Tooth disease type 4H (CMT4H), a rare autosomal recessive hereditary neuropathy characterized by early onset, progressive distal muscle weakness, scoliosis, and myelin outfoldings. Mutations in FGD4 result in disruptions of its function, leading to the clinical manifestations of CMT4H. Additionally, the gene has been implicated in cancer biology, with its expression correlating with aggressive phenotypes in some cancers and contributing to therapeutic resistances. The gene includes multiple exons and alternative splicing variants, underlining its broad functional implications.