FGD4 Antibody – Rabbit Polyclonal

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]

FGD4: 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. Defects in FGD4 are the cause of Charcot-Marie-Tooth disease type 4H (CMT4H); also known as Charcot-Marie- Tooth disease neuropathy type 4H. CMT4H is a recessive demyelinating form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot- Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy and primary peripheral axonal neuropathy. Demyelinating CMT neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention, autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: GEFs; GEFs, Rac/Rho

Chromosomal Location of Human Ortholog: 12p11.21

Cellular Component: ruffle; Golgi apparatus; lamellipodium; cytoplasm; cytosol; filopodium; actin cytoskeleton

Molecular Function: small GTPase binding; Rho guanyl-nucleotide exchange factor activity; guanyl-nucleotide exchange factor activity; metal ion binding; actin binding

Biological Process: lamellipodium biogenesis; regulation of cell shape; regulation of small GTPase mediated signal transduction; filopodium formation; nerve growth factor receptor signaling pathway; positive regulation of apoptosis; small GTPase mediated signal transduction; microspike biogenesis; cytoskeleton organization and biogenesis; actin cytoskeleton organization and biogenesis; positive regulation of GTPase activity

Disease: Charcot-marie-tooth Disease, Type 4h