FIG4 产品
(FIG4 Homolog, SAC1 Lipid Phosphatase Domain Containing (FIG4))
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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].
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Latest Publications for our FIG4 Products
: "Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy." in: Human molecular genetics, Vol. 24, Issue 2, pp. 383-96, (2014) (PubMed).: "Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy." in: Epilepsy research, Vol. 108, Issue 9, pp. 1511-8, (2014) (PubMed).
: "Murine Fig4 is dispensable for muscle development but required for muscle function." in: Skeletal muscle, Vol. 3, Issue 1, pp. 21, (2013) (PubMed).
: "Selectivity, cocrystal structures, and neuroprotective properties of leucettines, a family of protein kinase inhibitors derived from the marine sponge alkaloid leucettamine B." in: Journal of medicinal chemistry, Vol. 55, Issue 21, pp. 9312-30, (2012) (PubMed).
: "In vivo, Pikfyve generates PI(3,5)P2, which serves as both a signaling lipid and the major precursor for PI5P." in: Proceedings of the National Academy of Sciences of the United States of America, Vol. 109, Issue 43, pp. 17472-7, (2012) (PubMed).
: "Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J." in: PLoS genetics, Vol. 7, Issue 6, pp. e1002104, (2011) (PubMed).
: "Trauma does not accelerate neuronal degeneration in Fig4 insufficient mice." in: Journal of the neurological sciences, Vol. 312, Issue 1-2, pp. 102-7, (2011) (PubMed).
: "Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies." in: PLoS genetics, Vol. 7, Issue 10, pp. e1002319, (2011) (PubMed).
Synonyms and alternative names related to FIG4
FIG4 phosphoinositide 5-phosphatase (Fig4), FIG4 phosphoinositide 5-phosphatase (FIG4), A530089I17Rik, AI326867, ALS11, CMT4J, dJ249I4.1, KIAA0274, Kiaa0274, RGD1311375, Sac3, SAC3, YVSProtein level used designations for FIG4
- SAC domain-containing protein 3
- Sac domain-containing inositol phosphatase 3
- phosphatidylinositol 3,5-bisphosphate 5-phosphatase
- polyphosphoinositide phosphatase
- FIG4 homolog, SAC domain containing lipid phosphatase
- FIG4 homolog, SAC1 domain containing lipid phosphatase
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