C203823Level 7
MTM1 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human MTM1 wild-type allele is located in the vicinity of Xq28 and is approximately 110 kb in length. This allele, which encodes myotubularin protein, is involved in the dephosphorylation of phospholipids. Mutations in the gene are associated with X-linked centronuclear myopathy.
**Synonyms:** - CG2 - CNM - CNMX - MTMX - Myotubular Myopathy 1 Gene - Myotubularin 1 wt Allele - XLMTM
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Cross-system equivalences0
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