Myotubularin 1 (MTM1)

Myotubularin 1 is a member of a gene family that encodes tyrosine phosphatases. Myotubularin is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy.The protein encoded by the MTM1 gene, designated myotubularin, was found to be highly conserved in yeast. The protein contains the consensus sequence for the active site of tyrosine phosphatases, a wide class of proteins involved in signal transduction. Preliminary Northern analysis showed ubiquitous expression of a 3.9-kb MTM1 transcript, while a 2.4-kb message was detected in skeletal muscle and testis. Both the high conservation in yeast and the ubiquitous expression of the MTM1 transcript contrasted strikingly with the apparent muscle specificity of the disease myotubular myopathy.