FIG4, Polyclonal Antibody

Polyclonal FIG4; Anti-FIG4; FIG4; FIG-4; CMT4J; SAC domain-containing protein 3; Sac domain-containing inositol phosphatase 3; FIG 4; KIAA0274; ALS11; SAC3; dJ249I4.1

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

IgG

Rabbit

FIG4 antibody was purified by antigen-affinity chromatography

Supplied as a concentrated soloution containing 0.1M Tris, 0.1M Glycine, 10% Glycerol (pH 7.0). 0.01% Thimerosal was added as a preservative.

1 mg/ml (lot specific)

Store at 4 degree C for short term storage. Aliquot and store at -20 degree C for long term storage. Avoid repeated freeze/thaw cycles.

Small volumes of anti-FIG4 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Affinity purified Rabbit polyclonal FIG4 antibody

DNA & RNA; Purified Polyclonal Antibodies

Immunohistochemistry (IHC) Paraffin, Western Blot (WB)

IHC-P: 1:100-1:500
WB: 1:500-1:3000

Immunohistochemical staining of paraffin-embedded Breast ca using FIG4 antibody at a dilution of 1:500

Western blot analysis of 30 ug of whole cell lysate (A: HCT116) using a 7.5 % SDS PAGE gel and FIG4 antibody at a dilution of 1:1000

104 kDa

FIG4 phosphoinositide 5-phosphatase

polyphosphoinositide phosphatase

Polyphosphoinositide phosphatase

KIAA0274; SAC3  [Similar Products]

FIG4_HUMAN

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]

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; endoplasmic reticulum; early endosome membrane; late endosome membrane; endosome membrane

Molecular Function: protein binding; phosphatidylinositol-3-phosphatase activity; phosphatidylinositol-4-phosphate phosphatase activity; phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity

Biological Process: myelin formation; pigmentation; negative regulation of myelination; dephosphorylation; 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

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