Reviewed September 2008
What is the official name of the MTM1 gene?
The official name of this gene is “myotubularin 1.”
MTM1 is the gene's official symbol. The MTM1 gene is also known by other names, listed below.
What is the normal function of the MTM1 gene?
The MTM1 gene provides instructions for producing an enzyme called myotubularin. Myotubularin is thought to be involved in the development and maintenance of muscle cells. This enzyme acts as a phosphatase, which means that it removes clusters of oxygen and phosphorus atoms (phosphate groups) from other molecules. Myotubularin removes phosphate groups from two molecules called phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-biphosphate. These molecules are found within cell membranes and are likely involved in transporting molecules within cells.
Does the MTM1 gene share characteristics with other genes?
The MTM1 gene belongs to a family of genes called PTP (protein tyrosine phosphatases).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the MTM1 gene related to health conditions?
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X-linked myotubular myopathy - caused by mutations in the MTM1 gene
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More than 200 mutations in the MTM1 gene have been found to cause X-linked myotubular myopathy. Some MTM1 gene mutations change one of the protein building blocks (amino acids) in myotubularin, while other mutations result in an abnormally short, nonfunctional enzyme. The MTM1 gene mutations that prevent the production of any functional myotubularin tend to result in a more severe disease. Individuals who are mildly affected tend to have an MTM1 mutation that allows some functional myotubularin to be produced.
Mutations in the MTM1 gene are thought to disrupt myotubularin's role in muscle cell development and maintenance, causing muscle weakness and other signs and symptoms of X-linked myotubular myopathy.
Where is the MTM1 gene located?
Cytogenetic Location: Xq28
Molecular Location on the X chromosome: base pairs 149,487,726 to 149,592,271
The MTM1 gene is located on the long (q) arm of the X chromosome at position 28.
More precisely, the MTM1 gene is located from base pair 149,487,726 to base pair 149,592,271 on the X chromosome.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about MTM1?
What other names do people use for the MTM1 gene or gene products?
- CNM
- MTM1_HUMAN
- MTMX
- myotubularin
- XLMTM
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding MTM1?
acids ;
amino acid ;
atom ;
cell ;
cell membrane ;
enzyme ;
gene ;
molecule ;
mutation ;
oxygen ;
phosphatase ;
phosphate ;
phosphorus ;
protein ;
sign ;
symptom
You may find definitions for these and many other terms in the Genetics Home Reference
Glossary.
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
healthcare professional.
See How can I find a genetics professional in my area? in the Handbook.
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