Invitrogen

MTM1 Polyclonal Antibody

MTM1 Antibody in Immunohistochemistry (Paraffin) (IHC (P))

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MTM1 Antibody (PA5-17972) in IHC (P)

Immunohistochemistry analysis of MTM1 in Human Uterus (Formalin-Fixed, Paraffin-Embedded). Samples were incubated with MTM1 polyclonal antibody (Product # PA5-17972).

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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). {KD}

产品信息

PA5-17972

应用

建议稀释比

已发表文章

免疫印迹 (WB)

1-3 µg/mL

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免疫组化（石蜡） (IHC (P))

10 µg/mL

产品规格

种属反应

Human, Mouse

已发表种属

Human

宿主/亚型

Goat / IgG

分类

Polyclonal

类型

Antibody

抗原

Synthetic peptide sequence (SSPSQMMPHVQTHF) corresponding to the C-terminus amino acids of MTM1 (aa 590-603).

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偶联物

Unconjugated Unconjugated Unconjugated

形式

Liquid

浓度

0.5 mg/mL

纯化类型

Ammonium sulfate precipitation

保存液

TBS, pH 7.3, with 0.5% BSA

内含物

0.02% sodium azide

保存条件

-20° C, Avoid Freeze/Thaw Cycles

运输条件

Wet ice

AB_11002306

产品详细信息

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

This antibody is tested in Peptide ELISA: antibody detection limit dilution 16,000.

靶标信息

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.

仅用于科研。不用于诊断过程。未经明确授权不得转售。

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.