The Usher syndrome type 1 G protein is encoded by USH1 gene. The USH1G gene’s cytogenetic location is on the q arm (long arm) in chromosome 17 at position 25.1 (17q25.1). Its molecular location on the chromosome 17 is at base pairs 74,916,082 to 74,923,262 (Summary: Usher Syndrome, Type 1G).
USH1G gene’s main function is to provide information for making a protein, SANS, which is located in the inner ear and the retina. The protein SANS, interacts with other proteins which forms a larger protein complex which is critical for the development and function of the inner ear and retina. In the inner ear, SANS promotes the maintenance and development of the hair bundles and the tufts of the hair-like projections on cells lining in the inner ear. These projections are called stereocilia, which will bend in response to sound waves and transmit signals to the brain. SANS plays an important role in the retina as well. It aids in formation and maintenance of the specialized retinal cells that detect light and color, photoreceptor cells (USH1G Gene). …show more content…
Hearing loss is caused by a defective inner ear. Vision loss is caused by retinitis pigmentosa wich is a degeneration of retinal cells. In most cases. the rod cells in the retina are effected first which leads to an early night blindness and then a gradual loss of peripheral vision. Another way of visual impairment through this disease is through the early degeneration of the cone cells in the macula which leads to the loss of central acuity (USH1G Protein
USH1G gene’s main function is to provide information for making a protein, SANS, which is located in the inner ear and the retina. The protein SANS, interacts with other proteins which forms a larger protein complex which is critical for the development and function of the inner ear and retina. In the inner ear, SANS promotes the maintenance and development of the hair bundles and the tufts of the hair-like projections on cells lining in the inner ear. These projections are called stereocilia, which will bend in response to sound waves and transmit signals to the brain. SANS plays an important role in the retina as well. It aids in formation and maintenance of the specialized retinal cells that detect light and color, photoreceptor cells (USH1G Gene). …show more content…
Hearing loss is caused by a defective inner ear. Vision loss is caused by retinitis pigmentosa wich is a degeneration of retinal cells. In most cases. the rod cells in the retina are effected first which leads to an early night blindness and then a gradual loss of peripheral vision. Another way of visual impairment through this disease is through the early degeneration of the cone cells in the macula which leads to the loss of central acuity (USH1G Protein