Aliases: DAP-4, DAP4, DLP4, SAPAP-4, SAPAP4
Chromosome No: 20
Chromosome Band: 20q11.23
Genetic Category: Functional-Rare single gene variant/Functional-Rare single gene variant
ASD Reports: 4
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 5
Evidence score: 2
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Relevance to Autism
DLGAP4-deficient mice displayed profound behavioural abnormalities, including cognitive deficits combined with impaired vocal communication and social interaction, as well as dramatic changes in synapse morphology, function and plasticity (Schob et al., 2019). The protein encoded by the DLGAP4 gene interacts with several proteins encoded by high confidence ASD genes, including SHANK2 and SHANK3 (Boeckers et al., 1999).
Molecular Function
The product of this gene is a membrane-associated guanylate kinase found at the postsynaptic density in neuronal cells. It is a signaling molecule that can interact with potassium channels and receptors, as well as other signaling molecules. The protein encoded by this gene can interact with PSD-95 through its guanylate kinase domain and may be involved in clustering PSD-95 in the postsynaptic density region.
External Links
