GRM6

Metabotropic glutamate receptor 6 ;
mGluR6 ;

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.,

regulation of nucleotide metabolic process, regulation of transcription, DNA-dependent, cell surface receptor linked signal transduction, G-protein coupled receptor protein signaling pathway, G-protein signaling, coupled to cyclic nucleotide second messenger, G-protein signaling, coupled to cAMP nucleotide second messenger, inhibition of adenylate cyclase activity by G-protein signaling, negative regulation of adenylate cyclase activity, inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway, glutamate signaling pathway,metabotropic glutamate receptor signaling pathway, intracellular signaling cascade, cell-cell signaling, synaptic transmission, sensory perception, visual perception, behavior, locomotory behavior, response to radiation, response to light stimulus, detection of external stimulus, detection of abiotic stimulus, detection of light stimulus, detection of visible light, response to abiotic stimulus, transmission of nerve impulse, second-messenger-mediated signaling, cAMP-mediated signaling, cyclic-nucleotide-mediated signaling, regulation of cyclic nucleotide metabolic process, regulation of cyclic nucleotide biosynthetic process, regulation of nucleotide biosynthetic process, regulation of cAMP metabolic process, regulation of cAMP biosynthetic process, regulation of cyclase activity, negative regulation of cyclase activity,negative regulation of catalytic activity, negative regulation of molecular function, regulation of transcription,regulation of adenylate cyclase activity, neurological system process, cognition, sensory perception of light stimulus,regulation of RNA metabolic process, regulation of lyase activity, negative regulation of lyase activity, detection of stimulus,

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.

Detected in melanocytes.