Cell Biology Antibodies 12
Anti-FGD4 Antibody (CAB8596)
- SKU:
- CAB8596
- Product Type:
- Antibody
- Applications:
- WB
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Research Area:
- Cell Biology
Description
Antibody Name: | Anti-FGD4 Antibody |
Antibody SKU: | CAB8596 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB |
Reactivity: | Human, Mouse, Rat |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 99-198 of human FGD4 (NP_640334.2). |
Application: | WB |
Recommended Dilution: | WB 1:500 - 1:2000 |
Reactivity: | Human, Mouse, Rat |
Positive Samples: | U-87MG, HeLa, HepG2, A-549, Rat brain |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 99-198 of human FGD4 (NP_640334.2). |
Purification Method: | Affinity purification |
Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | QMEC EEEK AATL SSDT SIQA SEPL LDTH IVNG ERDE TATA PASP TTDS CDGN ASDS SYRT PGIG PVLP LEER GAET ETKV QERE NGES PLEL EQLD QHHE |
Gene ID: | 121512 |
Uniprot: | Q96M96 |
Cellular Location: | Cell projection, Cytoplasm, cytoskeleton, filopodium |
Calculated MW: | 20kDa/32kDa/86kDa |
Observed MW: | 100kDa |
Synonyms: | FGD4, CMT4H, FRABP, ZFYVE6, FYVE |
Background: | 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. |
UniProt Protein Function: | 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. |
UniProt Protein Details: | Protein type:GEFs; GEFs, Rac/Rho Chromosomal Location of Human Ortholog: 12p11.21 Cellular Component: actin cytoskeleton; cytoplasm; cytosol; Golgi apparatus; lamellipodium; ruffle Molecular Function:guanyl-nucleotide exchange factor activity; Rho guanyl-nucleotide exchange factor activity; small GTPase binding Biological Process: actin cytoskeleton organization and biogenesis; cytoskeleton organization and biogenesis; filopodium formation; positive regulation of apoptosis; regulation of cell shape; regulation of GTPase activity; regulation of small GTPase mediated signal transduction Disease: Charcot-marie-tooth Disease, Type 4h |
NCBI Summary: | 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] |
UniProt Code: | Q96M96 |
NCBI GenInfo Identifier: | 116241363 |
NCBI Gene ID: | 121512 |
NCBI Accession: | Q96M96.2 |
UniProt Secondary Accession: | Q96M96,Q6ULS2, Q8TCP6, |
UniProt Related Accession: | Q96M96 |
Molecular Weight: | 20,388 Da |
NCBI Full Name: | FYVE, RhoGEF and PH domain-containing protein 4 |
NCBI Synonym Full Names: | FYVE, RhoGEF and PH domain containing 4 |
NCBI Official Symbol: | FGD4 |
NCBI Official Synonym Symbols: | CMT4H; FRABP; ZFYVE6 |
NCBI Protein Information: | FYVE, RhoGEF and PH domain-containing protein 4 |
UniProt Protein Name: | FYVE, RhoGEF and PH domain-containing protein 4 |
UniProt Synonym Protein Names: | Actin filament-binding protein frabin; FGD1-related F-actin-binding protein; Zinc finger FYVE domain-containing protein 6 |
Protein Family: | FYVE, RhoGEF and PH domain-containing protein |
UniProt Gene Name: | FGD4 |
UniProt Entry Name: | FGD4_HUMAN |
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