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The official name of this gene is “myosin VI.”
MYO6 is the gene's official symbol. The MYO6 gene is also known by other names, listed below.
The MYO6 gene provides instructions for making a protein called myosin VI, which is part of a group of proteins called unconventional myosins. These proteins, which have similar structures, each play a role in transporting molecules within cells. Myosins interact with actin, a protein that is important for cell movement and shape. Researchers believe that myosins use long filaments of actin as tracks along which to transport other molecules.
Myosin VI is produced in the inner ear as well as in many other cell types. In the inner ear, myosin VI plays a role in the development and maintenance of hairlike projections called stereocilia. Stereocilia, which are rich in actin, line the inner ear and bend in response to sound waves. This bending motion is critical for converting sound waves to nerve impulses, which is an essential process for normal hearing.
The MYO6 gene belongs to a family of genes called myosin superfamily (myosin superfamily).
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 three mutations in the MYO6 gene have been identified in people with a form of nonsyndromic deafness (hearing loss without related signs and symptoms affecting other parts of the body) called DFNB37. These mutations cause an autosomal recessive form of nonsyndromic deafness. Autosomal recessive inheritance means that two copies of the gene in each cell are altered. Some of these mutations lead to changes in single amino acids (the building blocks of proteins) in the myosin VI protein. Other mutations cause the cell to produce an abnormally short version of myosin VI. MYO6 mutations probably alter the function of myosin VI, which disrupts the structure and organization of stereocilia and leads to hearing loss.
At least one mutation in the MYO6 gene causes an autosomal dominant form of nonsyndromic hearing loss called DFNA22. Autosomal dominant inheritance means that one altered copy of the gene in each cell is sufficient to cause the condition. This mutation leads to a change in a single amino acid in a critical region of the myosin VI protein, impairing its normal function. Altering the function of myosin VI disrupts the structure and organization of stereocilia, leading to hearing loss. Additionally, there is evidence that a mutation in the MYO6 gene can cause heart problems in some affected individuals.
Cytogenetic Location: 6q13
Molecular Location on chromosome 6: base pairs 76,458,892 to 76,629,253
The MYO6 gene is located on the long (q) arm of chromosome 6 at position 13.
More precisely, the MYO6 gene is located from base pair 76,458,892 to base pair 76,629,253 on chromosome 6.
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 MYO6 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 ; actin ; amino acid ; autosomal ; autosomal dominant ; autosomal recessive ; cell ; critical region ; gene ; inheritance ; mutation ; myosin ; protein ; recessive
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.