MTM1 antibody (AA 225-275) (Biotin)

Catalog No. ABIN1401289

Product Details anti-MTM1 Antibody (Biotin)

Target: MTM1 (Myotubularin 1 (MTM1))

Binding Specificity: AA 225-275

Reactivity: Human, Mouse, Rat

Host: Rabbit

Clonality: Polyclonal

Conjugate: This MTM1 antibody is conjugated to Biotin

Application: Western Blotting (WB), Immunohistochemistry (Paraffin-embedded Sections) (IHC (p))

Cross-Reactivity: Human, Mouse, Rat

Purification: Purified by Protein A.

Immunogen: KLH conjugated synthetic peptide derived from human MTM1/Myotubularin

Isotype: IgG

Application Details

Application Notes: WB 1:300-5000
IHC-P 1:200-400

Restrictions: For Research Use only

Handling

Format: Liquid

Concentration: 1 μg/μL

Buffer: Aqueous buffered solution containing 0.01M TBS ( pH 7.4) with 1 % BSA, 0.03 % Proclin300 and 50 % Glycerol.

Preservative: ProClin

Precaution of Use: This product contains ProClin: a POISONOUS AND HAZARDOUS SUBSTANCE, which should be handled by trained staff only.

Storage: -20 °C

Storage Comment: Store at -20°C for 12 months.

Expiry Date: 12 months

Target Details for MTM1

Target: MTM1 (Myotubularin 1 (MTM1))

Alternative Name: MTM1 (MTM1 Products)

Synonyms: CNM antibody, MTMX antibody, XLMTM antibody, wu:fb19c01 antibody, zgc:123266 antibody, myotubularin 1 antibody, myotubularin 1 S homeolog antibody, MTM1 antibody, mtm1 antibody, mtm1.S antibody, Mtm1 antibody

Background:

Synonyms: CG2, CNM, KIAA4176, mKIAA4176, Mtm, Mtm1, MTM1_HUMAN, MTMX, Myotubular myopathy 1, Myotubularin, XLMTM.

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.

Gene ID: 4534

UniProt: Q13496

Pathways: Inositol Metabolic Process, Skeletal Muscle Fiber Development