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DLG3

Function

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

Involvement in disease

Intellectual developmental disorder, X-linked 90

XLID90

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 intellectual disability, while syndromic forms presents with associated physical, neurological and/or psychiatric manifestations.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the MAGUK family.

Alternative names

KIAA1232, DLG3, Disks large homolog 3, Neuroendocrine-DLG, Synapse-associated protein 102, XLMR, SAP-102, SAP102

swissprot:Q92796 omim:300189 entrezGene:1741