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Reviewed February 2007

What is the official name of the ADGRV1 gene?

The official name of this gene is “adhesion G protein-coupled receptor V1.”

ADGRV1 is the gene's official symbol. The ADGRV1 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 ADGRV1 gene?

The ADGRV1 gene, formerly known as GPR98 or MASS1, provides instructions for making a protein that is found in the inner ear and in the retina, which is the tissue at the back of the eye that detects light and color. Researchers believe that this protein plays a role in the development and maintenance of an inner ear structure called the cochlea. The cochlea is a snail-shaped structure that converts sound waves into nerve impulses. In the retina, studies suggest that the ADGRV1 protein plays a role in the development and maintenance of specialized cells that detect light and color (photoreceptor cells). This protein may be especially important for the function of synapses, which are junctions between nerve cells where cell-to-cell communication occurs.

Does the ADGRV1 gene share characteristics with other genes?

The ADGRV1 gene belongs to a family of genes called GPCR (G protein-coupled receptors).

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 ADGRV1 gene related to health conditions?

Usher syndrome - caused by mutations in the ADGRV1 gene

At least four mutations in the ADGRV1 gene have been identified in people with Usher syndrome type IIC. These mutations either prevent the production of the ADGRV1 protein or make an abnormal version of this protein that does not work. Mutations in the ADGRV1 gene are thought to be an uncommon cause of Usher syndrome type II, accounting for only about 5 percent of cases. Retinitis pigmentosa, the vision disorder associated with Usher syndrome, appears to be relatively mild in these cases.

Where is the ADGRV1 gene located?

Cytogenetic Location: 5q13

Molecular Location on chromosome 5: base pairs 90,558,800 to 91,164,223

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The ADGRV1 gene is located on the long (q) arm of chromosome 5 at position 13.

The ADGRV1 gene is located on the long (q) arm of chromosome 5 at position 13.

More precisely, the ADGRV1 gene is located from base pair 90,558,800 to base pair 91,164,223 on chromosome 5.

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

Where can I find additional information about ADGRV1?

You and your healthcare professional may find the following resources about ADGRV1 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 ADGRV1 gene or gene products?

  • FEB4
  • GPR98
  • G protein-coupled receptor 98
  • KIAA0686
  • MASS1
  • monogenic, audiogenic seizure susceptibility 1 homolog (mouse)
  • USH2C
  • Usher syndrome type-2C protein
  • very large G protein-coupled receptor 1
  • VLGR1
  • VLGR1b

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 ADGRV1?

cell ; cochlea ; gene ; monogenic ; photoreceptor ; protein ; receptor ; retina ; seizure ; susceptibility ; syndrome ; tissue

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: February 8, 2016