MTM1 myotubularin 1
Gene ID: 4534, updated on 3-Nov-2024Gene type: protein coding
Also known as: CNM; CNMX; MTMX; XLMTM
- See all available tests in GTR for this gene
- Go to complete Gene record for MTM1
- Go to Variation Viewer for MTM1 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Severe X-linked myotubular myopathy | not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2021-01-11) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-01-11) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- Xq28
- Sequence:
- Chromosome: X; NC_000023.11 (150562653..150673143)
- Total number of exons:
- 19
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MTM1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- MTM1 homepage - Leiden Muscular Dystrophy pages
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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