MTM1 Polyclonal Antibody

• Background:

  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.

• Synonyms:

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

• Gene ID:

  4534

• Swiss Prot:

  Q13496

• Host:

  Rabbit

• Cross Reactivity:

  Mouse

• Immunogen:

  201-300/603

• Target:

  MTM1

• Clonality:

  Polyclonal

• Isotype:

  IgG

• Conjugation:

  Unconjugated

• Source:

  KLH conjugated synthetic peptide derived from human MTM1/Myotubularin

• Applications:

  WB, FCM, IHC-P, IF (IHC-P)

• Purification:

  Purified by Protein A.

• Concentration:

  1µg/µl

• Dilution:

  WB (1:300-5000), FCM (1:20-100), IHC-P (1:200-400), IF (IHC-P) (1:50-200)

• Buffer:

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

• Modification:

  Unmodified

• Storage Conditions:

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

• Gene ID URL:

  4534

• Predicted Cross Reactivity:

  Human, Rat, Dog, Pig, Rabbit