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The official name of this gene is “myosin IA.”
MYO1A is the gene's official symbol. The MYO1A gene is also known by other names, listed below.
The MYO1A gene provides instructions for making a protein called myosin IA, 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 IA is made in intestinal epithelial cells, which are cells that line the walls of the intestine. These cells have fingerlike projections called microvilli that absorb nutrients from food as it passes through the intestine. Based on their appearance, groups of these microvilli are known collectively as the brush border. Microvilli contain bundles of actin filaments that provide structural support and are used for internal transport. Although the precise function of the myosin IA protein is unknown, it is active in the brush border and is probably involved in transporting nutrients from food.
Myosin IA is also present in the inner ear and appears to be involved in normal hearing. Researchers have not determined the protein's role in the inner ear.
The MYO1A 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 eight mutations in the MYO1A 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 DFNA48. Most of these genetic changes alter single protein building blocks (amino acids) in the myosin IA protein. In one case, a mutation adds an extra amino acid to the protein. These mutations probably alter the structure of myosin IA or cause an abnormally small, nonfunctional version of the protein to be made. Researchers have not determined how mutations in the MYO1A gene could result in hearing loss, and it remains unclear whether MYO1A mutations impair hearing.
Cytogenetic Location: 12q13-q14
Molecular Location on chromosome 12: base pairs 57,422,300 to 57,444,548
The MYO1A gene is located on the long (q) arm of chromosome 12 between positions 13 and 14.
More precisely, the MYO1A gene is located from base pair 57,422,300 to base pair 57,444,548 on chromosome 12.
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 MYO1A 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 ; brush border ; cell ; epithelial ; gene ; intestine ; microvilli ; mutation ; myosin ; protein
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://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.