Human Polyphosphoinositide phosphatase ELISA Kit | FIG4 elisa kit
Human Polyphosphoinositide phosphatase (FIG4) ELISA Kit
Principle of the Assay: This assay employs a two-site sandwich ELISA to quantitate FIG4 in Human serum, plasma. An antibody specific for FIG4 has been pre-coated onto a microplate. Standards and samples are pipetted into the wells and any FIG4 present is bound by the immobilized antibody. After removing any unbound substances, a biotin-conjugated antibody specific for FIG4 is added to the wells. After washing, Streptavidin conjugated Horseradish Peroxidase (HRP) is added to the wells. Following a wash to remove any unbound avidin-enzyme reagent, a substrate solution is added to the wells and color develops in proportion to the amount of FIG4 bound in the initial step. The color development is stopped and the intensity of the color is measured.
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: early endosome membrane; endoplasmic reticulum; endosome membrane; Golgi membrane; intracellular membrane-bound organelle; late endosome membrane; lipid droplet; recycling endosome
Molecular Function: phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity; phosphatidylinositol-3-phosphatase activity; phosphatidylinositol-4-phosphate phosphatase activity; protein binding
Biological Process: dephosphorylation; locomotory behavior; myelin formation; negative regulation of myelination; neuron development; phosphatidylinositol biosynthetic process; pigmentation; positive regulation of neuron projection development; vacuole organization
Disease: Amyotrophic Lateral Sclerosis 11; Charcot-marie-tooth Disease, Type 4j; Polymicrogyria, Bilateral Temporooccipital; Yunis-varon Syndrome
Research Articles on FIG4
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Product Notes
The Human FIG4 fig4 (Catalog #AAA283205) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA283205 ELISA Kit recognizes Human FIG4. It is sometimes possible for the material contained within the vial of "Polyphosphoinositide phosphatase, ELISA Kit" 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
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