DLG3

This gene encodes a member of the membrane-associated guanylate kinase protein family. The encoded protein may play a role in clustering of NMDA receptors at excitatory synapses. It may also negatively regulate cell proliferation through interaction with the C-terminal region of the adenomatosis polyposis coli tumor suppressor protein. Mutations in this gene have been associated with X-linked cognitive disability. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]

Discs Large MAGUK Scaffold Protein 3

Required for learning most likely through its role in synaptic plasticity following NMDA receptor signaling.

Cell-cell adhesion Source: GO_Central
Establishment of planar polarity Source: Ensembl
Establishment or maintenance of epithelial cell apical/basal polarity Source: GO_Central
Negative regulation of cell population proliferation Source: UniProtKB
Positive regulation of protein tyrosine kinase activity Source: ARUK-UCL
Receptor clustering Source: GO_Central
Receptor localization to synapse Source: GO_Central
Regulation of postsynaptic membrane neurotransmitter receptor levels Source: Ensembl

Cytosol; Extracellular space; AMPA glutamate receptor complex; Basolateral plasma membrane; Plasma membrane; Bicellular tight junction; Cell junction; Dendritic shaft; Glutamatergic synapse; Growth cone; Neuronal cell body; Postsynaptic density, intracellular component

Mental retardation, X-linked 90 (MRX90):
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.