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FIG4 Rabbit pAb (bs-11690R)  
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产品编号 bs-11690R
英文名称 FIG4 Rabbit pAb
中文名称 肌萎缩侧索硬化症相关蛋白FIG4抗体
别    名 5-bisphosphate 5-phosphatase; Fig4; FIG4_HUMAN; KIAA0274; ALS11; Phosphatidylinositol 3; hSac3; Phosphatidylinositol 3, 5 bisphosphate 5 phosphatase; Polyphosphoinositide phosphatase; SAC domain containing protein 3; SAC domain-containing protein 3; SAC3.  
研究领域 细胞生物  神经生物学  信号转导  
抗体来源 Rabbit
克隆类型 Polyclonal
克 隆 号
交叉反应 Rat (predicted: Human,Mouse,Pig,Sheep,Chicken,Dog,Monkey)
产品应用 IHC-P=1:100-500,IHC-F=1:100-500,IF=1:100-500
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理论分子量 104 kDa
检测分子量
细胞定位 细胞膜 
性    状 Liquid
浓    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human FIG4: 1-100/907 
亚    型 IgG
纯化方法 affinity purified by Protein A
缓 冲 液 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
保存条件 Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.
注意事项 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
产品介绍 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 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 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.

SWISS:
Q92562

Gene ID:
9896

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



产品图片
Paraformaldehyde-fixed, paraffin embedded (rat brain); Antigen retrieval by microwave in sodium citrate buffer (pH6.0) ; Block endogenous peroxidase by 3% hydrogen peroxide for 30 minutes; Blocking buffer (3% BSA) at RT for 30min; Antibody incubation with (FIG4) Polyclonal Antibody, Unconjugated (bs-11690R) at 1:400 overnight at 4℃, followed by conjugation to the secondary antibody (labeled with HRP)and DAB staining.
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