DLGAP1

Chr 18

DLG associated protein 1

Also known as: DAP-1, DAP-1-ALPHA, DAP-1-BETA, DAP1, DLGAP1A, DLGAP1B, GKAP, SAPAP1

NCBI Gene: 9229 ENSG00000170579 UniProt: O14490 OMIM: 605445

The protein functions as part of the postsynaptic scaffold in neuronal cells and serves as a structural constituent of the postsynaptic density at glutamatergic synapses. Mutations cause neurodevelopmental disorders with autosomal dominant inheritance. This gene is highly constrained against loss-of-function variants (pLI 0.999, LOEUF 0.254), indicating that haploinsufficiency is likely not tolerated in the general population.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable molecular adaptor activity. Predicted to be a structural constituent of postsynaptic density. Predicted to be involved in several processes, including aggresome assembly; protein localization to synapse; and regulation of proteasomal protein catabolic process. Predicted to be located in plasma membrane. Predicted to be active in glutamatergic synapse and postsynaptic density, intracellular component. [provided by Alliance of Genome Resources, Jul 2025]

GeneReviews OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.25

LOEUF· LoF intol.

LOF

Mechanism· predicted

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GeneReview available — DLGAP1