Enables ionotropic glutamate receptor binding activity and scaffold protein binding activity. Involved in several processes, including dendritic spine morphogenesis; locomotory exploration behavior; and neurotransmitter receptor localization to postsynaptic specialization membrane. Acts upstream of or within protein localization to synapse; regulation of long-term neuronal synaptic plasticity; and synaptic vesicle maturation. Located in several cellular components, including axon; postsynaptic density; and synaptic vesicle. Part of AMPA glutamate receptor complex. Is active in glutamatergic synapse. Colocalizes with postsynaptic membrane. Is expressed in central nervous system; dorsal root ganglion; and sensory organ. Used to study Williams-Beuren syndrome and autism spectrum disorder. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder. Orthologous to human DLG4 (discs large MAGUK scaffold protein 4).
MGI Description
PHENOTYPE: Homozygotes for a targeted null mutation exhibit severely impaired spatial learning, alterations in long-term potentiation and depression, and lack of hyperalgesia responses in a neuropathic pain model. [provided by MGI curators]