myotubularin (MTM1, CG2)

Introduction

mutations seen in x-linked myotubular myopathy

Function

• dual-specificity phosphatase
• acts on both phospho-yr & phospho-Ser
• could be involved in a signal transduction pathway necessary for late myogenesis, although its ubiquitous expression suggests a wider function

Structure

• belongs to the protein-tyrosine phosphatase family non-receptor class myotubularin subfamily
• contains 1 GRAM domain
• contains 1 myotubularin phosphatase domain

Pathology

• defects in MTM1 are the cause of myotubular myopathy type-1 (X-linked)

More general terms

• myotubularin family protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4534
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:4534
• OMIM: https://mirror.omim.org/entry/300415
• OMIM: https://mirror.omim.org/entry/310400
• UniProt: http://www.uniprot.org/uniprot/Q13496.html