Invitrogen

MTM1 Polyclonal Antibody

Advanced Verification

This Antibody was verified by Knockdown to ensure that the antibody binds to the antigen stated.

1 Reference

View all (14) MTM1 antibodies

Datasheet

Protocols

Questions & Answers

Tech Support

Datasheet

Protocols

Questions & Answers

Tech Support

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MTM1 Antibody in Western Blot (WB) — Knockdown of MTM 1 was achieved by transfecting Hep G2 cells with MTM 1 specific siRNAs (Silencer® select Product # s9041). Western blot analysis (Fig. a) was performed using whole cell extracts from the MTM 1 knockdown cells (lane 3), non-specific scrambled siRNA transfected cells (lane 2) and untransfected cells (lane 1). The blots were probed with MTM 1 Polyclonal Antibody (Product # PA5-17972, 1:250 dilution) and Rabbit anti-Goat IgG (H+L) Superclonal™ Secondary Antibody, HRP conjugate (Product # A27014, 0.25 µg/mL, 1:4000 dilution). Densitometric analysis of this western blot is shown in histogram (Fig. b). Decrease in signal upon siRNA mediated knock down confirms that antibody is specific to MTM 1.

MTM1 Antibody — Antibody specificity was demonstrated by siRNA mediated knockdown of target protein. Hep G2 cells were transfected with MTM 1 siRNA and loss of signal was observed in Western Blot using Anti-MTM 1 Polyclonal Antibody (Product # PA5-17972).

Product Details

PA5-17972

Applications

Tested Dilution

Publications

Western Blot (WB)

1-3 µg/mL

View 1 publication 1 publication

Immunohistochemistry (Paraffin) (IHC (P))

10 µg/mL

Product Specifications

Species Reactivity

Human, Mouse

Published species

Human

Host/Isotype

Goat / IgG

Class

Polyclonal

Type

Antibody

Immunogen

Synthetic peptide sequence (SSPSQMMPHVQTHF) corresponding to the C-terminus amino acids of MTM1

Conjugate

Unconjugated

Form

Liquid

Concentration

0.5 mg/mL

Purification

Antigen affinity chromatography

Storage buffer

TBS, pH 7.3, with 0.5% BSA

Contains

0.02% sodium azide

Storage conditions

-20° C, Avoid Freeze/Thaw Cycles

RRID

AB_11002306

Product Specific Information

This antibody is predicted to react with bovine, canine and mouse based on sequence homology.

Target Information

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 hosphatidylinositol 3-monophosphate and is involved in the regulation of the phosphatidylinositol 3-kinase (PI 3-kinase) pathway and membrane trafficking. Wildtype myotubularin can directly dephosphorylate PI 3-P and PI 4-P in vitro. Thus, it decreases PI 3-P levels by down-regulating PI 3-K activity and by facilitating the degradation of PI 3-P.

For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.

Product References

Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy.

European journal of human genetics : EJHG

Bryen SJ,Oates EC,Evesson FJ,Lu JK,Waddell LB,Joshi H,Ryan MM,Cummings BB,McLean CA,MacArthur DG,Kornberg AJ,Cooper ST

PA5-17972 was used in Western Blot to report a novel deep intronic MTM1 variant NG_008199.1(NM_000252.2):c.1468-577A>G identified by whole genome sequencing in an individual with severe hypotonia, no respiratory effort at birth and centralised nuclei on muscle biopsy.