Anti-MTM1 Antibody Picoband® APC Conjugated

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.

1. Barth, P. G., Dubowitz, V. X-linked myotubular myopathy--a long-term follow-up study. Europ. J. Paediat. Neurol. 2: 49-56, 1998. 2. Biancalana, V., Caron, O., Gallati, S., Baas, F., Kress, W., Novelli, G., D'Apice, M. R., Lagier-Tourenne, C., Buj-Bello, A., Romero, N. B., Mandel, J.-L. Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Hum. Genet. 112: 135-142, 2003. 3. Blondeau, F., Laporte, J., Bodin, S., Superti-Furga, G., Payrastre, B., Mandel, J.-L. Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway. Hum. Molec. Genet. 9: 2223-2229, 2000.