GRM6
glutamate metabotropic receptor 6
Normal Function
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, 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.
More About This Health ConditionRelated Conditions
Autosomal recessive congenital stationary night blindness
Health Conditions Related to Genetic Changes
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.