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Genetics Home Reference: your guide to understanding genetic conditions
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MYOT

Reviewed April 2011

What is the official name of the MYOT gene?

The official name of this gene is “myotilin.”

MYOT is the gene's official symbol. The MYOT gene is also known by other names, listed below.

What is the normal function of the MYOT gene?

The MYOT gene provides instructions for making a protein called myotilin. Myotilin is found in heart (cardiac) muscle and muscles used for movement (skeletal muscle). Within muscle fibers, myotilin proteins are found in structures called sarcomeres, which are necessary for muscles to tense (contract). Myotilin attaches (binds) to other proteins to help form sarcomeres. Myotilin is also involved in linking neighboring sarcomeres to each another to form myofibrils, the basic unit of muscle fibers. The connection of sarcomeres to each other and the formation of myofibrils are essential for maintaining muscle fiber strength during repeated cycles of contraction and relaxation.

How are changes in the MYOT gene related to health conditions?

myofibrillar myopathy - caused by mutations in the MYOT gene

At least five mutations in the MYOT gene have been found to cause myofibrillar myopathy. Most of these mutations are located in an area of the gene known as exon 2. MYOT gene mutations that cause myofibrillar myopathy change single protein building blocks (amino acids) in myotilin. Mutated myotilin proteins cluster together with other muscle proteins in the sarcomere to form clumps (aggregates). The aggregates prevent these proteins from functioning normally. A dysfunctional myotilin protein cannot properly bind with other proteins, preventing the formation of sarcomeres and myofibrils. MYOT gene mutations that cause myofibrillar myopathy impair the function of muscle fibers, causing weakness and the other features of this condition.

Where is the MYOT gene located?

Cytogenetic Location: 5q31

Molecular Location on chromosome 5: base pairs 137,203,544 to 137,223,539

The MYOT gene is located on the long (q) arm of chromosome 5 at position 31.

The MYOT gene is located on the long (q) arm of chromosome 5 at position 31.

More precisely, the MYOT gene is located from base pair 137,203,544 to base pair 137,223,539 on chromosome 5.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about MYOT?

You and your healthcare professional may find the following resources about MYOT helpful.

  • Educational resources - Information pages

    • The Cell: A Molecular Approach (second edition, 2000): Muscle Contraction (http://www.ncbi.nlm.nih.gov/books/NBK9961/)
    • Washington University, St. Louis: Neuromuscular Disease Center: Myofibrillar Myopathies (http://neuromuscular.wustl.edu/musdist/lg.html)

  • Gene Reviews - Clinical summary

    • Gene Review: Limb-Girdle Muscular Dystrophy (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lgmd-overview)
    • Gene Review: Myofibrillar Myopathy (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mfm)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for MYOT (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9499%5Bgeneid%5D)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((MYOT%5BTIAB%5D)%20OR%20(myotilin%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/604103)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_MYOT.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/9499)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=9499)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=12399)

What other names do people use for the MYOT gene or gene products?

  • MYOTI_HUMAN
  • TTID

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding MYOT?

acids ; cardiac ; contraction ; exon ; gene ; muscular dystrophy ; protein ; sarcomere ; skeletal muscle

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/9499)
  • Ferrer I, Olivé M. Molecular pathology of myofibrillar myopathies. Expert Rev Mol Med. 2008 Sep 3;10:e25. doi: 10.1017/S1462399408000793. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18764962?dopt=Abstract)
  • OMIM: TITIN IMMUNOGLOBULIN DOMAIN PROTEIN (http://omim.org/entry/604103)
  • Schröder R, Schoser B. Myofibrillar myopathies: a clinical and myopathological guide. Brain Pathol. 2009 Jul;19(3):483-92. doi: 10.1111/j.1750-3639.2009.00289.x. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19563540?dopt=Abstract)
  • Selcen D, Engel AG. Mutations in myotilin cause myofibrillar myopathy. Neurology. 2004 Apr 27;62(8):1363-71. Erratum in: Neurology. 2004 Jul 27;63(2):405. (http://www.ncbi.nlm.nih.gov/pubmed/15111675?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: April 2011
Published: May 13, 2013