| Primary Identifier | MGI:1277959 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 13385 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) 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). 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] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
