Monoclonal Anti-MTM1 antibody produced in mouse

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)

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

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.

Solution in phosphate buffered saline, pH 7.4

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