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GRM6

GRM6

Reviewed January 2014

What is the official name of the GRM6 gene?

The official name of this gene is “glutamate receptor, metabotropic 6.”

GRM6 is the gene's official symbol. The GRM6 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 GRM6 gene?

The GRM6 gene provides instructions for making a protein called metabotropic glutamate receptor 6 (mGluR6). This protein is a glutamate receptor, which is a type of protein that attaches (binds) to the signaling molecule glutamate on the surface of cells. The mGluR6 protein is found within the membrane that surrounds cells called bipolar cells, which are part of the light-sensitive tissue at the back of the eye (retina). Bipolar cells receive visual signals from cells called rods that are used to see in low light. Rod cells release glutamate, which then binds to mGluR6 on bipolar cells. This binding ultimately triggers bipolar cells to transmit the visual signals to other retinal cells and eventually to the brain.

Does the GRM6 gene share characteristics with other genes?

The GRM6 gene belongs to a family of genes called GPCR (G protein-coupled receptors). It also belongs to a family of genes called GR (glutamate 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 GRM6 gene related to health conditions?

autosomal recessive congenital stationary night blindness - caused by mutations in the GRM6 gene

At least 25 mutations in the GRM6 gene have been found to cause autosomal recessive congenital stationary night blindness, which is characterized by the inability to see in low light and other vision problems such as nearsightedness (myopia). Most GRM6 gene mutations impair the function of the mGluR6 protein by changing single protein building blocks (amino acids) in the protein. These mutations prevent the protein from reaching the cell membrane where it is needed to bind to glutamate. Without any mGluR6 protein at the cell surface, the glutamate released from rod cells in low light is not detected by bipolar cells, so visual signals are not transmitted. The brain does not receive the visual information sent by rods, leading to difficulty seeing in low light.

Where is the GRM6 gene located?

Cytogenetic Location: 5q35

Molecular Location on chromosome 5: base pairs 178,978,326 to 178,995,122

The GRM6 gene is located on the long (q) arm of chromosome 5 at position 35.

The GRM6 gene is located on the long (q) arm of chromosome 5 at position 35.

More precisely, the GRM6 gene is located from base pair 178,978,326 to base pair 178,995,122 on chromosome 5.

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

Where can I find additional information about GRM6?

You and your healthcare professional may find the following resources about GRM6 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 GRM6 gene or gene products?

  • GPRC1F
  • GRM6_HUMAN
  • metabotropic glutamate receptor 6
  • mGlu6
  • MGLUR6

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 GRM6?

acids ; autosomal ; autosomal recessive ; cell ; cell membrane ; congenital ; gene ; molecule ; myopia ; nearsightedness ; photoreceptor ; protein ; receptor ; recessive ; retina ; rods ; tissue

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

See also Understanding Medical Terminology.

References (8 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: January 2014
Published: December 22, 2014