Mouse FYVE, RhoGEF and PH domain containing 4 ELISA Kit | FGD4 elisa kit

Mouse FYVE, RhoGEF and PH domain-containing protein 4, FGD4 ELISA Kit

Cat. Num. AAA9332261

• Gene Names: Fgd4; Frabp; ZFYVE6; 9030023J02Rik; 9330209B17Rik
• Reactivity: Mouse
• Synonyms: FYVE; RhoGEF and PH domain containing 4; Mouse FYVE; RhoGEF and PH domain-containing protein 4; FGD4 ELISA Kit; RhoGEF and PH domain-containing protein 4 (FGD4) ELISA kit; CMT4H; DKFZp313E1818; DKFZp434K1572; FLJ34370; FLJ42663; FRABP; MGC57222; ZFYVE6; FGD1 family; member 4; FGD1-related F-actin-binding protein; actin-filament binding protein frabin; zinc finger FYVE do; FGD4 elisa kit

• Reactivity: Mouse

• Preparation and Storage: Store all reagents at 2-8 degree C

NCBI and Uniprot Product Information

• NCBI GI #: 29336047
• NCBI GeneID: 224014
• NCBI Accession #: NP_631978.1
• NCBI GenBank Nucleotide #: NM_139232.2
• UniProt Accession #: Q91ZT5; Q3UEB6; Q8BW60; Q8BZI7; Q91ZT3; Q91ZT4; A1L355
• Molecular Weight: 86,541 Da
• NCBI Official Full Name: FYVE, RhoGEF and PH domain-containing protein 4 isoform alpha
• NCBI Official Synonym Full Names: FYVE, RhoGEF and PH domain containing 4
• NCBI Official Symbol: Fgd4
• NCBI Official Synonym Symbols: Frabp; ZFYVE6; 9030023J02Rik; 9330209B17Rik
• NCBI Protein Information: FYVE, RhoGEF and PH domain-containing protein 4; frabin; Fgd1-related F-actin-binding protein; actin filament-binding protein frabin
• UniProt Protein Name: FYVE, RhoGEF and PH domain-containing protein 4
• Protein Family: FYVE, RhoGEF and PH domain-containing protein
• UniProt Gene Name: Fgd4
• UniProt Entry Name: FGD4_MOUSE

NCBI Description

This gene is a member of the FYVE, RhoGEF and PH domain containing (FGD) family. The encoded protein is a Cdc42-specific guanine nucleotide exchange factor (GEF) that plays an essential role in regulating the actin cytoskeleton and cell morphology. Disruption of the gene in mouse causes abnormal nerve development and dysmyelination. Mutations in a similar gene in human can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]

Uniprot Description

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, Rac/Rho; GEFs

Cellular Component: cell projection; cytoskeleton; lamellipodium; cytoplasm; filopodium; actin cytoskeleton

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

Biological Process: lamellipodium biogenesis; regulation of cell shape; microspike biogenesis; regulation of Rho protein signal transduction; activation of JNK activity