DLG3
DLG3 encodes synapse-associated protein 102 (SAP102), a member of the membrane-associated guanylate kinase protein family.
Neuronal SAP102 is expressed during early brain development and is localized to the postsynaptic density of excitatory synapses.
Neuronal SAP102 is composed of three amino-terminal PDZ domains, an src homology domain, and a carboxyl-terminal guanylate kinase domain.
The PDZ domains interact directly with the NR2 subunits of the NMDA glutamate receptor and with other proteins responsible for NMDA receptor localization, immobilization, and signaling.
Pathology
mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation (#15185169#)