Monoclonal anti-mtm1

Not available outside of the UK & Ireland.

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.

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.

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.SequenceMASASTSKYNSHSLENESIKRTSRDGVNRDLTEAVPRLPGETLITDKEVIYICPFNGPIKGRVYITNYRLYLRSLETDSSLILDVPLGVISRIEKMGGAT

Legal Information

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Physical form

Solution in phosphate buffered saline, pH 7.4