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USH1G

USH1G

Reviewed February 2007

What is the official name of the USH1G gene?

The official name of this gene is “Usher syndrome 1G (autosomal recessive).”

USH1G is the gene's official symbol. The USH1G 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 USH1G gene?

The USH1G gene provides instructions for making a protein called SANS. This protein is found in cells of the inner ear and the part of the eye that detects light and color (the retina). SANS interacts with other proteins, forming a larger protein complex that is critical for the development and function of the retina and inner ear.

In the inner ear, SANS promotes the proper development and maintenance of the hair bundles, tufts of hairlike projections on cells lining the inner ear. These hairlike projections, called stereocilia, bend in response to sound waves and transmit signals to the brain.

In the retina, SANS probably plays a role in the formation and maintenance of specialized retinal cells that detect light and color (photoreceptor cells).

Does the USH1G gene share characteristics with other genes?

The USH1G gene belongs to a family of genes called ANKRD (ankyrin repeat 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 USH1G gene related to health conditions?

Usher syndrome - caused by mutations in the USH1G gene

At least five mutations in the USH1G gene have been shown to cause Usher syndrome type 1G. Some of the mutations in the USH1G gene involve changes that lead to the production of an abnormally short, and probably nonfunctional, SANS protein. Other mutations lead to changes in single protein building blocks (amino acids) in the SANS protein, which alter its function. An abnormal SANS protein prevents the proper development of the inner ear and retina, leading to the hearing and vision loss characteristic of Usher syndrome.

Where is the USH1G gene located?

Cytogenetic Location: 17q25.1

Molecular Location on chromosome 17: base pairs 74,916,083 to 74,923,262

The USH1G gene is located on the long (q) arm of chromosome 17 at position 25.1.

The USH1G gene is located on the long (q) arm of chromosome 17 at position 25.1.

More precisely, the USH1G gene is located from base pair 74,916,083 to base pair 74,923,262 on chromosome 17.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about USH1G?

You and your healthcare professional may find the following resources about USH1G 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 USH1G gene or gene products?

  • ANKS4A
  • FLJ33924
  • Sans
  • Scaffold protein containing ankyrin repeats and SAM domain
  • USH1G_HUMAN

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 USH1G?

acids ; autosomal ; autosomal recessive ; domain ; gene ; photoreceptor ; protein ; recessive ; retina ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (9 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.

 
Reviewed: February 2007
Published: November 24, 2014