Rabbit anti-Human FIG4 Polyclonal Antibody | anti-FIG4 antibody
FIG4 antibody
Immunohistochemistry: 1:50-1:500
NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. [provided by RefSeq, Jul 2008]
Uniprot Description
SAC3: The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). In vitro, hydrolyzes all three D5-phosphorylated polyphosphoinositide substrates in the order PtdIns(4,5)P2 > PtdIns(3,5)P2 > PtdIns(3,4,5)P3. Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes. Defects in FIG4 are the cause of Charcot-Marie-Tooth disease type 4J (CMT4J). CMT4J is a recessive demyelinating, severe 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 neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. Defects in FIG4 are the cause of amyotrophic lateral sclerosis type 11 (ALS11). ALS is a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10%.
Protein type: EC 3.1.3.-
Chromosomal Location of Human Ortholog: 6q21
Cellular Component: Golgi membrane; recycling endosome; early endosome membrane; endoplasmic reticulum; late endosome membrane; endosome membrane
Molecular Function: phosphatidylinositol-3-phosphatase activity; protein binding; phosphatidylinositol-4-phosphate phosphatase activity; phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity
Biological Process: myelin formation; dephosphorylation; pigmentation; negative regulation of myelination; phospholipid metabolic process; phosphatidylinositol biosynthetic process; neuron development; locomotory behavior; vacuole organization and biogenesis
Disease: Charcot-marie-tooth Disease, Type 4j; Yunis-varon Syndrome; Amyotrophic Lateral Sclerosis 11; Polymicrogyria, Bilateral Temporooccipital
Research Articles on FIG4
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Product Notes
The FIG4 fig4 (Catalog #AAA9413004) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The FIG4 antibody reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's FIG4 can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB), Immunohistochemistry (IHC). Western blotting: 1:500-1:3000 Immunohistochemistry: 1:50-1:500. Researchers should empirically determine the suitability of the FIG4 fig4 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "FIG4, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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