{"symbol":"GRID2","synonyms":["SCAR18","GluD2"],"name":"glutamate receptor, ionotropic, delta 2","description":"The protein encoded by this gene is a member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. The encoded protein is a multi-pass membrane protein that is expressed selectively in cerebellar Purkinje cells. A point mutation in the mouse ortholog, associated with the phenotype named \u0027lurcher\u0027, in the heterozygous state leads to ataxia resulting from selective, cell-autonomous apoptosis of cerebellar Purkinje cells during postnatal development. Mice homozygous for this mutation die shortly after birth from massive loss of mid- and hindbrain neurons during late embryogenesis. This protein also plays a role in synapse organization between parallel fibers and Purkinje cells. Alternate splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause cerebellar ataxia in humans. [provided by RefSeq, Apr 2014]","ncbiEntrezGeneId":2895,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/2895","proteins":[{"symbol":"GRID2_HUMAN","href":"/api/1.0/protein/GRID2_HUMAN"}],"hgncRootFamilies":[{"name":"Glutamate receptors","href":"/api/1.0/gene_family/Glutamate+receptors"},{"name":"Ion channels","href":"/api/1.0/gene_family/Ion+channels"}]}