Metabotropic Glutamate Receptor 7/MGLUR7

G-protein coupled receptor activated by glutamate that regulates axon outgrowth through the MAPK-cAMP-PKA signaling pathway during neuronal development (PubMed:33500274). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors, such as adenylate cyclase that it inhibits (PubMed:9473604).

Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities

NEDSHBA

An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, hypotonia, severe to profound intellectual disability, early-onset epilepsy, and microcephaly. Neuroimaging shows cerebral atrophy, thin corpus callosum and hypomyelination in a majority of cases. Death in childhood may occur.

None

The disease is caused by variants affecting the gene represented in this entry.

N-glycosylated.

Belongs to the G-protein coupled receptor 3 family.

Expressed in many areas of the brain, especially in the cerebral cortex, hippocampus, and cerebellum. Expression of GRM7 isoforms in non-neuronal tissues appears to be restricted to isoform 3 and isoform 4.

• Cell membrane
• Multi-pass membrane protein

GPRC1G, MGLUR7, GRM7, Metabotropic glutamate receptor 7, mGluR7

• entrezGene:2917
• omim:604101
• swissprot:Q14831

Proteins

Neuroscience

102251Da