discs large MAGUK scaffold protein 3
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
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]
Required for learning most likely through its role in synaptic plasticity following NMDA receptor signaling.
From NCBI Gene:
- X-Linked mental retardation 90
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. [MIM:300850]
- Atlas of Genetics and Cytogenetics in Oncology and Haematology
- HGNC Gene Family: Membrane associated guanylate kinases
- HGNC Gene Family: PDZ domain containing
- HGNC Gene Family: Protein phosphatase 1 regulatory subunits
- HGNC Gene Family: X-linked mental retardation
- HGNC Gene Symbol Report
- NCBI Gene