其他名称： 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)
实测条带： 85kD
功能： 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.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm, cytoskeleton . Cell projection, filopodium . Concentrated in filopodia and poorly detected at lamellipodia. Binds along the sides of actin fibers (By similarity). .
组织表达： Expressed in different tissues, including brain, cerebellum, peripheral nerve, skeletal muscle, heart, uterus, placenta and testis.
其他名称： 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)
实测条带： 85kD
功能： 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.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm, cytoskeleton . Cell projection, filopodium . Concentrated in filopodia and poorly detected at lamellipodia. Binds along the sides of actin fibers (By similarity). .
组织表达： Expressed in different tissues, including brain, cerebellum, peripheral nerve, skeletal muscle, heart, uterus, placenta and testis.
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