|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
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.
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.
The MYOT gene belongs to a family of genes called immunoglobulin superfamily, I-set domain containing (immunoglobulin superfamily, I-set domain containing).
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
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.
Cytogenetic Location: 5q31
Molecular Location on chromosome 5: base pairs 137,867,846 to 137,887,850
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 137,867,846 to base pair 137,887,850 on chromosome 5.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about MYOT helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; cardiac ; contraction ; exon ; gene ; muscular dystrophy ; myofibrils ; 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).
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.