rs2507918219
This variant is located in the DLG4 gene.
▶ClinVar annotation
Intellectual developmental disorder 62
View on ClinVar →About DLG4
This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. It heteromultimerizes with another MAGUK protein, DLG2, and is recruited into NMDA receptor and potassium channel clusters. These two MAGUK proteins may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
View all DLG4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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