GRM6 Antibody – Rabbit Polyclonal

mGluR6: Receptor for glutamate. The activity of this receptor is mediated by a G-protein that inhibits adenylate cyclase activity. Defects in GRM6 are the cause of congenital stationary night blindness type 1B (CSNB1B). 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. Belongs to the G-protein coupled receptor 3 family.

Protein type: Receptor, GPCR; GPCR, family 3; Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 5q35

Cellular Component: presynaptic membrane; Golgi membrane; endoplasmic reticulum membrane; integral to plasma membrane; dendrite; plasma membrane

Molecular Function: G-protein coupled receptor activity; protein binding; group III metabotropic glutamate receptor activity; protein homodimerization activity; glutamate receptor activity

Biological Process: synaptic transmission; regulation of synaptic transmission, glutamatergic; retina development in camera-type eye; metabotropic glutamate receptor signaling pathway; detection of light stimulus involved in visual perception; locomotory behavior; metabotropic glutamate receptor, adenylate cyclase inhibiting pathway; detection of visible light

Disease: Night Blindness, Congenital Stationary, Type 1b