肌萎缩侧索硬化症相关蛋白贵滨骋4抗体
规格：1尘驳/1尘濒
英文名： FIG4
别名： 5-bisphosphate 5-phosphatase; Fig4; FIG4_HUMAN; KIAA0274; ALS11; Phosphatidylinositol 3; hSac3; Phosphatidylinositol 3,5 bisphosphate 5 phosphatase; Polyphosphoinositide phosphatase; SAC domain contai
分子量： 104kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：笔辞濒测肠濒辞苍补濒
亚型：滨驳骋
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human FIG4 (1-
交叉反应：Human, Mouse, Rat, Chicken, Dog, Pig, Sheep, Monkey,
细胞定位：细胞膜
肌萎缩侧索硬化症相关蛋白贵滨骋4抗体产物介绍：background: 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] Function: 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 肌萎缩侧索硬化症相关蛋白贵滨骋4抗体bodies (MVB) transport intermediates from early endosomes. Subcellular Location: Endosome membrane. Localization requires VAC14 and PIKFYVE. DISEASE: Defects in FIG4 are the cause of Charcot-Marie-Tooth disease type 4J (CMT4J) [MIM:611228]. 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) [MIM:612577]. ALS is a neurodegenerative disorder 肌萎缩侧索硬化症相关蛋白贵滨骋4抗体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%. Similarity: Contains 1 SAC domain. Database links: Entrez Gene: 9896 Human Entrez Gene: 103199 Mouse Entrez Gene: 309855 Rat Omim: 609390 Human SwissProt: Q92562 Human SwissProt: Q91WF7 Mouse Unigene: 529959 Human Unigene: 277242 Mouse Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
肌萎缩侧索硬化症相关蛋白贵滨骋4抗体产物应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：细胞生物 神经生物学 信号转导
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid