MTM1
Chr Xmyotubularin 1
Also known as: CNM, CNMX, MTMX, XLMTM
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, Jul 2008]
Primary Disease Associations & Inheritance
Clinical highlights
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MTM1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
A Study of AT132 in Young Children With X-Linked Myotubular Myopathy (XLMTM)
ACTIVE NOT RECRUITINGA Study to Check Liver Health in Boys With XLMTM, a Serious Genetic Muscle Condition
RECRUITINGMyotubular and Centronuclear Myopathy Patient Registry
RECRUITINGStudy of ASP2957 in Male Participants With X-linked Myotubular Myopathy Who Need Ventilators
RECRUITINGExternal Resources
Links to major genomics databases and tools