|Other Names||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, FGD4, FRABP, ZFYVE6|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|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 (By similarity).|
|Cellular Location||Cytoplasm, cytoskeleton. Cell projection, filopodium. Note=Concentrated in filopodia and poorly detected at lamellipodia. Binds along the sides of actin fibers (By similarity).|
|Tissue Location||Expressed in different tissues, including brain, cerebellum, peripheral nerve, skeletal muscle, heart, uterus, placenta and testis.|
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This gene encodes a protein that is involved in theregulation of the actin cytoskeleton and cell shape. This proteincontains an actin filament-binding domain, which together with itsDbl homology domain and one of its pleckstrin homology domains, canform microspikes. This protein can activate MAPK8 independently ofthe actin filament-binding domain, and it is also involved in theactivation of CDC42 via the exchange of bound GDP for free GTP. Theactivation of CDC42 also enables this protein to play a role inmediating the cellular invasion of Cryptosporidium parvum, anintracellular parasite that infects the gastrointestinal tract.Mutations in this gene can cause Charcot-Marie-Tooth disease type4H (CMT4H), a disorder of the peripheral nervous system. [providedby RefSeq].
Rose, J. Phd, et al. Mol. Med. (2010) In press :Fabrizi, G.M., et al. Neurology 72(13):1160-1164(2009)Houlden, H., et al. Neurology 72(7):617-620(2009)Horlock, C., et al. Int. Arch. Allergy Immunol. 150(3):237-251(2009)Stendel, C., et al. Am. J. Hum. Genet. 81(1):158-164(2007)
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