功能: disease:Defects in GRM6 are the cause of congenital stationary night blindness type 1B (CSNB1B) [MIM:257270]. This disorder consits of a previously unrecognized, autosomal recessive form of congenital night blindness associated with a negative electroretinogram waveform. Patients are night blind from an early age, and when maximally dark-adapted, they could perceive lights only with an intensity equal to or slightly dimmer than that normally detected by the cone system. ERGs in response to single brief flashes of light have clearly detectable a-waves, which are derived from photoreceptors, and greatly reduced b-waves, which are derived from the second-order inner retinal neurons. ERGs in response to sawtooth flickering light indicate a markedly reduced ON response and a nearly normal OFF response. There is no subjective delay in the perception of suddenly appearing white vs black objects on a gray background.,function:Receptor for glutamate. The activity of this receptor is mediated by a G-protein that inhibits adenylate cyclase activity.,similarity:Belongs to the G-protein coupled receptor 3 family.,
相关产品: RS0001,RS0002,YM3028,YM3029
细胞定位: Cell membrane ; Multi-pass membrane protein . Endoplasmic reticulum membrane ; Multi-pass membrane protein . Golgi apparatus membrane ; Multi-pass membrane protein . Cell projection, dendrite . Subject to trafficking from the endoplasmic reticulum to the Golgi apparatus and then to the cell membrane.
功能: disease:Defects in GRM6 are the cause of congenital stationary night blindness type 1B (CSNB1B) [MIM:257270]. This disorder consits of a previously unrecognized, autosomal recessive form of congenital night blindness associated with a negative electroretinogram waveform. Patients are night blind from an early age, and when maximally dark-adapted, they could perceive lights only with an intensity equal to or slightly dimmer than that normally detected by the cone system. ERGs in response to single brief flashes of light have clearly detectable a-waves, which are derived from photoreceptors, and greatly reduced b-waves, which are derived from the second-order inner retinal neurons. ERGs in response to sawtooth flickering light indicate a markedly reduced ON response and a nearly normal OFF response. There is no subjective delay in the perception of suddenly appearing white vs black objects on a gray background.,function:Receptor for glutamate. The activity of this receptor is mediated by a G-protein that inhibits adenylate cyclase activity.,similarity:Belongs to the G-protein coupled receptor 3 family.,
相关产品: RS0001,RS0002,YM3028,YM3029
细胞定位: Cell membrane ; Multi-pass membrane protein . Endoplasmic reticulum membrane ; Multi-pass membrane protein . Golgi apparatus membrane ; Multi-pass membrane protein . Cell projection, dendrite . Subject to trafficking from the endoplasmic reticulum to the Golgi apparatus and then to the cell membrane.