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Reviewed October 2010
What is the official name of the USH2A gene?
The official name of this gene is “Usher syndrome 2A (autosomal recessive, mild).”
USH2A is the gene's official symbol. The USH2A gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the USH2A gene?
The USH2A gene provides instructions for making a protein called usherin. Usherin is an important component of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. Usherin is found in the inner ear and the layer of light-sensitive tissue at the back of the eye (the retina). Although the function of usherin has not been well established, studies suggest that it is part of a group of proteins (a protein complex) that plays an important role in inner ear and retinal development. In these locations, the protein complex may also be involved in the function of synapses, which are junctions between nerve cells where cell-to-cell communication occurs.
Does the USH2A gene share characteristics with other genes?
The USH2A gene belongs to a family of genes called fibronectin type III domain containing (fibronectin type III 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? in the Handbook.
How are changes in the USH2A gene related to health conditions?
Where is the USH2A gene located?
Cytogenetic Location: 1q41
Molecular Location on chromosome 1: base pairs 215,622,893 to 216,423,395
The USH2A gene is located on the long (q) arm of chromosome 1 at position 41.
More precisely, the USH2A gene is located from base pair 215,622,893 to base pair 216,423,395 on chromosome 1.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about USH2A?
You and your healthcare professional may find the following resources about USH2A helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the USH2A gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding USH2A?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (11 links)
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? in the Handbook.