肌管素相关蛋白14抗体
规格：1尘驳/1尘濒
英文名： MTMR14
别名： C3orf29; Egg derived tyrosine phosphatase homolog; FLJ11546; FLJ22405; FLJ46453; FLJ90311; HCV NS5A transactivated protein 4 splice variant A binding protein 1; HCV NS5A-transactivated protein 4 splic
分子量： 72kDa
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 MTMR14
交叉反应：Human, Mouse, Rat, Chicken, Dog, Pig, Cow, Horse, Rabbit, Sheep,
细胞定位：细胞浆 细胞膜
肌管素相关蛋白14抗体产物介绍：background: Myotubularin-related protein 14 (MTMR14), also known as Jumpy, is a myotubularin-related phosphoinositol-3-phosphate (PI3P) phosphatase (1). Mutations in the MTMR14 gene have been associated with centronuclear myopathy (1). MTMR14 deficiency in mice leads to altered calcium homeostasis and muscle disorders (2). MTMR14 has also been shown to play a role in autophagy, a process that is highly regulated by phosphatidylinositides through the type III PI3K, Vps34 (3). MTMR14 was localized to autophagic isolation membranes and early autophagosomes (3). In these studies, MTMR14 inhibited autophagy and mutations of MTMR14 associated with centronuclear myopathy were also defective in autophagy inhibition. In zebrafish, MTMR14 knockdown was shown to increase the number of 肌管素相关蛋白14抗体autophagosomes, suggesting that its activity is associated with an inhibition of autophagy (4). Function: Lipid phosphatase which efficiently dephosphorylates phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2; inactive toward PtdIns4P, PtdIns(3,4)P2, PtdIns(4,5)P2 and PtdIns(3,4,5)P3. Subunit: Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Subcellular Location: Cytoplasm. Found in reticular structures and plasma membrane ruffles. Concentrated near the nucleus. Tissue Specificity: Expressed in various tissues, including heart, skeletal muscle, placenta, liver, lung, kidney and pancreas. DISEASE: Defects in MTMR14 may be a cause of centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]; also known as autosomal dominant myotubular myopathy. Centronuclear myopathies are congenital muscle disorders characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. 肌管素相关蛋白14抗体It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. Similarity: Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Database links: UniProtKB/Swiss-Prot: Q8NCE2.2 Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
肌管素相关蛋白14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 **学 激酶和磷酸酶
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid