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.

CG2; CNM; KIAA4176; mKIAA4176; Mtm; Mtm1; MTM1_HUMAN; MTMX; Myotubular myopathy 1; Myotubularin; XLMTM.

Mouse,Human,Rat,Dog,Pig,Rabbit

WB

WB 1:500-2000

70kD

4534

Q13496

https://www.uniprot.org/uniprotkb/Q13496

Cytoplasm. Cell membrane; Peripheral membrane protein. Cell projection, filopodium. Cell projection, ruffle. Late endosome. Note=Localizes as a dense cytoplasmic network. Also localizes to the plasma membrane, including plasma membrane extensions such as filopodia and ruffles. Predominantly located in the cytoplasm following interaction with MTMR12. Recruited to the late endosome following EGF stimulation. [DOMAIN] The GRAM domain mediates binding to PI(3,5)P2 and, with lower affinity, to other phosphoinositides.

KLH conjugated synthetic peptide derived from human MTM1/Myotubularin

Rabbit

Polyclonal

IgG

affinity purified by Protein A

Liquid

0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.

Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.