GRM6 gene
The GRM6 gene provides instructions for making the mGluR6 protein, which is essential for transmitting visual signals from the retina to the brain.
Normal Function
The GRM6 gene provides instructions for making a protein called metabotropic glutamate receptor 6 (mGluR6). This protein is a glutamate receptor that attaches (binds) to the signaling molecule glutamate on the surface of cells. The mGluR6 protein is found within the membrane of 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, which are used to see in low light. Rod cells release glutamate, which binds to mGluR6 on bipolar cells. This binding triggers the bipolar cells to transmit visual signals to other retinal cells and eventually to the brain.
Health Conditions Related to Genetic Changes
Autosomal recessive congenital stationary night blindness
At least 25 mutations in the GRM6 gene have been found to cause autosomal recessive congenital stationary night blindness. This condition 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 amino acids. These mutations prevent the protein from reaching the cell membrane where it is needed to bind to glutamate. Without mGluR6 protein at the cell surface, the glutamate released from rod cells in low light is not detected by bipolar cells, and visual signals are not transmitted to the brain.
Other Names for This Gene
- glutamate receptor, metabotropic 6
- GPRC1F
- GRM6_HUMAN
- metabotropic glutamate receptor 6
- mGlu6
- MGLUR6
