| Overview |
| bs-9178R-Biotin |
| MTM1 Polyclonal Antibody, Biotin Conjugated |
| WB, IHC-P |
| Mouse |
| Human, Rat, Dog, Pig, Rabbit |
| Specifications |
| Biotin |
| Rabbit |
| KLH conjugated synthetic peptide derived from human MTM1/Myotubularin |
| Polyclonal |
| #REF! |
| IgG |
| 1ug/ul |
| Purified by Protein A. |
| Aqueous buffered solution containing 0.01M TBS (pH 7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol. |
| Store at -20C for 12 months. |
| Target |
| 4534 |
| Q13496 |
| CG2; CNM; KIAA4176; mKIAA4176; Mtm; Mtm1; MTM1_HUMAN; MTMX; Myotubular myopathy 1; Myotubularin; XLMTM. |
| X-linked recessive myotubular myopathy is a congenital muscular disease characterized by severe hypotonia and generalized muscle weakness that, in most cases, leads to early postnatal death. The gene responsible for myotubular myopathy MTM1 encodes a dual specificity phosphatase, named myotubularin, which is highly conserved through evolution. The gene for MTM1 is localized to a 300 kb critical region on human Xq128 between IDS and GRBRA3. Human MTM1, a 603 amino-acid protein, is mutated in myotubular myopathy. The largely related protein hMTMR2 is found mutated in a recessive form of Charcot-Marie-Tooth neuropathy. Myotubularin is primarily a lipid phosphatase that acts on phosphatidylinositol 3-monophosphate and is involved in the regulation of the phosphatidylinositol 3-kinase (PI3-kinase) pathway and membrane trafficking. Wild-type myotubularin can directly dephosphorylate PI3P and PI4P in vitro. Thus, it decreases PI3P levels by down-regulating PI3K activity and by facilitating the degradation of PI3P. |
| Application Dilution |
| WB |
1:300-5000 |
| IHC-P |
1:200-400 |
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