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WH0004534M1

Sigma-Aldrich

Monoclonal Anti-MTM1 antibody produced in mouse

clone 1C10, purified immunoglobulin, buffered aqueous solution

Synonym(s):

Anti-CNM, Anti-MTMX, Anti-XLMTM, Anti-myotubularin 1

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About This Item

UNSPSC Code:
12352203

biological source

mouse

conjugate

unconjugated

antibody form

purified immunoglobulin

antibody product type

primary antibodies

clone

1C10, monoclonal

form

buffered aqueous solution

species reactivity

human

technique(s)

immunohistochemistry (formalin-fixed, paraffin-embedded sections): suitable
indirect ELISA: suitable
western blot: 1-5 μg/mL

isotype

IgG2aκ

GenBank accession no.

BC030779

UniProt accession no.

Q13496

shipped in

dry ice

storage temp.

−20°C

target post-translational modification

unmodified

Gene Information

human ... MTM1(4534)

General description

The MTM1 (myotubularin 1) gene encodes myotubularin, a phosphatase that consists of 15 exons. It is located on human chromosome Xq28.
This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. (provided by RefSeq)

Immunogen

MTM1 (AAH30779, 1 a.a. ~ 100 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.

Sequence
MASASTSKYNSHSLENESIKRTSRDGVNRDLTEAVPRLPGETLITDKEVIYICPFNGPIKGRVYITNYRLYLRSLETDSSLILDVPLGVISRIEKMGGAT

Biochem/physiol Actions

The MTM1 (myotubularin 1) targets two phosphoinositides (PIs), PtdIns3P and PtdInsP2, that participate in the endosomal–lysosomal pathway. Myotubularin is required for muscle cell differentiation and controls the mitochondrial morphology in muscular fibers. Mutations in the MTM1 gene result in X-linked myotubular myopathy (XLMTM), characterized by neonatal hypotonia and respiratory failure.

Physical form

Solution in phosphate buffered saline, pH 7.4

Legal Information

GenBank is a registered trademark of United States Department of Health and Human Services

Disclaimer

Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.

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Storage Class Code

10 - Combustible liquids

Flash Point(F)

Not applicable

Flash Point(C)

Not applicable

Personal Protective Equipment

dust mask type N95 (US), Eyeshields, Gloves

Regulatory Information

新产品

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Certificates of Analysis (COA)

Lot/Batch Number
DC121-1C10
08269-1C10
06097-1C10

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Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers
Savarese M, et al.
Neuromuscular Disorders, 26(4-5), 292-299 (2016)
Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1)
Kioschis P, et al.
Genomics (1998)

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