Synthesized peptide derived from human FGD4 AA range: 291-341

This antibody detects endogenous levels of FGD4 at Human/Mouse/Rat

FGD4 FRABP ZFYVE6

FGD4

FYVE, RhoGEF and PH domain-containing protein 4 ;
Actin filament-binding protein frabin ;
FGD1-related F-actin-binding protein ;
Zinc finger FYVE domain-containing protein 6 ;

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],

Alternative products:Additional isoforms seem to exist,Disease:Defects in FGD4 are the cause of Charcot-Marie-Tooth disease type 4H (CMT4H) [MIM:609311]; 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.,Domain:The part of the protein spanning the actin filament-binding domain together with the DH domain and the first PH domain is necessary and sufficient for microspike formation. Activation of MAPK8 requires the presence of all domains with the exception of the actin filament-binding domain.,Function: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.,similarity:Contains 1 DH (DBL-homology) domain.,similarity:Contains 1 FYVE-type zinc finger.,similarity:Contains 1 PH domain.,similarity:Contains 2 PH domains.,subcellular location:Concentrated in filopodia and poorly detected at lamellipodia. Binds along the sides of actin fibers.,subunit:Homooligomer.,tissue specificity:Expressed in different tissues, including brain, cerebellum, peripheral nerve, skeletal muscle, heart, uterus, placenta and testis.,

Cytoplasm, cytoskeleton . Cell projection, filopodium . Concentrated in filopodia and poorly detected at lamellipodia. Binds along the sides of actin fibers (By similarity). .

Expressed in different tissues, including brain, cerebellum, peripheral nerve, skeletal muscle, heart, uterus, placenta and testis.