Reviewed February 2007
What is the official name of the MYO7A gene?
The official name of this gene is “myosin VIIA.”
MYO7A is the gene's official symbol. The MYO7A gene is also known by other names, listed below.
What is the normal function of the MYO7A gene?
The MYO7A gene provides instructions for making a protein called myosin VIIA, 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 VIIA is made primarily in the inner ear and the light-sensitive tissue at the back of the eye (the retina). In the inner ear, myosin VIIA 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.
Myosin VIIA is also found in the pigmented cells of the retina (the retinal pigment epithelium or RPE), and probably plays a similar role in the development and maintenance of this tissue. Research suggests that one function of myosin VIIA is to carry small sacs of pigment called melanosomes within the retinal pigment epithelium.
Does the MYO7A gene share characteristics with other genes?
The MYO7A gene belongs to a family of genes called myosins (myosins).
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.
How are changes in the MYO7A gene related to health conditions?
- nonsyndromic hearing loss - caused by mutations in the MYO7A gene
At least four mutations in the MYO7A 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 DFNA11. Autosomal dominant inheritance means that one altered copy of the gene in each cell is sufficient to cause the condition. Most of these mutations alter a single protein building block (amino acid) in myosin VIIA, resulting in an abnormal protein that does not work properly. Other genetic changes delete a small amount of DNA from critical regions of the MYO7A gene, which probably changes the structure of the protein. Researchers suspect that the altered protein causes hearing loss by disrupting the growth and organization of stereocilia in the inner ear.
A few studies have associated MYO7A mutations with an autosomal recessive form of nonsyndromic deafness called DFNB2. Autosomal recessive inheritance means that two copies of the gene in each cell are altered. Researchers suspect that these cases may actually represent early forms of Usher syndrome, which is characterized by hearing loss and a vision disorder called retinitis pigmentosa. It is not known whether all children with MYO7A mutations and hearing loss will develop retinitis pigmentosa later in life.
- Usher syndrome - caused by mutations in the MYO7A gene
More than 120 mutations in the MYO7A gene have been identified in people with Usher syndrome type 1B. Many of these genetic changes alter a single protein building block (amino acid) in critical regions of the myosin VIIA protein. Other mutations introduce a premature stop signal in the instructions for the myosin VIIA protein. As a result, an abnormally small version of this protein is made. Some mutations insert or delete small amounts of DNA in the MYO7A gene, which alters the protein. All of these changes cause the production of a nonfunctional myosin VIIA protein that adversely affects the development and function of cells in the inner ear and retina, resulting in Usher syndrome.
Where is the MYO7A gene located?
Cytogenetic Location: 11q13.5
Molecular Location on chromosome 11: base pairs 77,128,214 to 77,215,241
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/4647))
The MYO7A gene is located on the long (q) arm of chromosome 11 at position 13.5.
More precisely, the MYO7A gene is located from base pair 77,128,214 to base pair 77,215,241 on chromosome 11.
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 MYO7A?
You and your healthcare professional may find the following resources about MYO7A helpful.
Educational resources - Information pages
- Neuroscience (second edition, 2001): Hair Cells and the Mechanoelectrical Transduction of Sound Waves (http://www.ncbi.nlm.nih.gov/books/NBK10867/)
- Neuroscience (second edition, 2001): The Retina (http://www.ncbi.nlm.nih.gov/books/NBK10885/)
- The Cell: A Molecular Approach (second edition, 2000): Unconventional Myosins (http://www.ncbi.nlm.nih.gov/books/NBK9961/)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1265)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for MYO7A (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4647%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=%28%28MYO7A%5BTIAB%5D%29%20OR%20%28myosin%20VIIA%20%28Usher%20syndrome%201B%20%20%29%5BTIAB%5D%29%29%20OR%20%28%28deafness,%20autosomal%20dominant%2011%5BTIAB%5D%29%20OR%20%28deafness,%20autosomal%20recessive%202%5BTIAB%5D%29%20OR%20%28DFNA11%5BTIAB%5D%29%20OR%20%28DFNB2%5BTIAB%5D%29%20OR%20%28myosin%20VIIA%5BTIAB%5D%29%20OR%20%28NSRD2%5BTIAB%5D%29%20OR%20%28USH1B%5BTIAB%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/276903)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_MYO7A.html)
- HGNC Gene Family: A-kinase anchoring proteins (http://www.genenames.org/cgi-bin/genefamilies/set/396)
- HGNC Gene Family: Myosins, class VII (http://www.genenames.org/cgi-bin/genefamilies/set/1102)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=7606)
- Leiden Open Variation Database: MYO7A Gene Mutations (https://research.cchmc.org/LOVD2/home.php?select_db=MYO7A)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/4647)
- RetNet: Summaries of Genes and Loci Causing Retinal Diseases: MYO7A (https://sph.uth.edu/retnet/disease.htm)
- The Hereditary Hearing Loss Homepage (http://hereditaryhearingloss.org/)
What other names do people use for the MYO7A gene or gene products?
- deafness, autosomal dominant 11
- deafness, autosomal recessive 2
- myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))
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 MYO7A?
amino acid ;
autosomal dominant ;
autosomal recessive ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Hildebrand MS, Thorne NP, Bromhead CJ, Kahrizi K, Webster JA, Fattahi Z, Bataejad M, Kimberling WJ, Stephan D, Najmabadi H, Bahlo M, Smith RJ. Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation. Clin Genet. 2010 Jun;77(6):563-71. doi: 10.1111/j.1399-0004.2009.01344.x. Epub 2010 Feb 4. (http://www.ncbi.nlm.nih.gov/pubmed/20132242?dopt=Abstract)
- Lenassi E, Saihan Z, Cipriani V, Le Quesne Stabej P, Moore AT, Luxon LM, Bitner-Glindzicz M, Webster AR. Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation. Ophthalmology. 2014 Feb;121(2):580-7. doi: 10.1016/j.ophtha.2013.09.017. Epub 2013 Nov 5. (http://www.ncbi.nlm.nih.gov/pubmed/24199935?dopt=Abstract)
- Liu XZ, Walsh J, Mburu P, Kendrick-Jones J, Cope MJ, Steel KP, Brown SD. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nat Genet. 1997 Jun;16(2):188-90. (http://www.ncbi.nlm.nih.gov/pubmed/9171832?dopt=Abstract)
- OMIM: MYOSIN VIIA (http://omim.org/entry/276903)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/4647)
- Riazuddin S, Nazli S, Ahmed ZM, Yang Y, Zulfiqar F, Shaikh RS, Zafar AU, Khan SN, Sabar F, Javid FT, Wilcox ER, Tsilou E, Boger ET, Sellers JR, Belyantseva IA, Riazuddin S, Friedman TB. Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. Hum Mutat. 2008 Apr;29(4):502-11. doi: 10.1002/humu.20677. (http://www.ncbi.nlm.nih.gov/pubmed/18181211?dopt=Abstract)
- Rong W, Chen X, Zhao K, Liu Y, Liu X, Ha S, Liu W, Kang X, Sheng X, Zhao C. Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2. PLoS One. 2014 May 15;9(5):e97808. doi: 10.1371/journal.pone.0097808. eCollection 2014. (http://www.ncbi.nlm.nih.gov/pubmed/24831256?dopt=Abstract)
- Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston MD, et al. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature. 1995 Mar 2;374(6517):60-1. (http://www.ncbi.nlm.nih.gov/pubmed/7870171?dopt=Abstract)
- Weil D, Küssel P, Blanchard S, Lévy G, Levi-Acobas F, Drira M, Ayadi H, Petit C. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat Genet. 1997 Jun;16(2):191-3. (http://www.ncbi.nlm.nih.gov/pubmed/9171833?dopt=Abstract)
- Williams DS, Lopes VS. The many different cellular functions of MYO7A in the retina. Biochem Soc Trans. 2011 Oct;39(5):1207-10. doi: 10.1042/BST0391207. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21936790?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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.