DLG3 gene

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 mental retardation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]

From UniProt:

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

From NCBI Gene:

  • X-Linked mental retardation 90

From UniProt:

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]

Cytogenetic Location: Xq13.1, which is the long (q) arm of the X chromosome at position 13.1

Molecular Location: base pairs 70,444,850 to 70,505,490 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xq13.1, which is the long (q) arm of the X chromosome at position 13.1
  • MRX
  • MRX90
  • NEDLG
  • PPP1R82
  • SAP102
  • XLMR