| SAP97 | |
|---|---|
| Symbol | SAP97 |
| Full Name | Synapse-Associated Protein 97 |
| Chromosome | 3q29 |
| NCBI Gene ID | [1749](https://www.ncbi.nlm.nih.gov/gene/1749) |
| OMIM | [602504](https://www.omim.org/entry/602504) |
| Ensembl | [ENSG00000150048](https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000150048) |
| UniProt | [Q12904](https://www.uniprot.org/uniprot/Q12904) |
| Associated Diseases | Intellectual disability, autism spectrum disorder, schizophrenia, 3q29 deletion syndrome |
SAP97 is a human gene whose product sAP97 (also known as DLG1) is a member of the membrane-associated guanylate kinase (MAGUK) family of scaffold proteins. It is enriched at synaptic postsynaptic densities and plays critical roles in synaptic plasticity, receptor trafficking, and neuronal signaling. SAP97 interacts with NMDA receptor subunits (GRIN1, GRIN2A, GRIN2B), AMPA receptor subunits (GRIA1, GRIA2), and various signaling molecules. It is involved in the organization of the postsynaptic density and regulates synaptic strength and plasticity. This page covers the gene's normal function, disease associations, expression patterns, and key research findings relevant to neurodegeneration.
SAP97 (also known as DLG1) is a member of the membrane-associated guanylate kinase (MAGUK) family of scaffold proteins. It is enriched at synaptic postsynaptic densities and plays critical roles in synaptic plasticity, receptor trafficking, and neuronal signaling. SAP97 interacts with NMDA receptor subunits (GRIN1, GRIN2A, GRIN2B), AMPA receptor subunits (GRIA1, GRIA2), and various signaling molecules. It is involved in the organization of the postsynaptic density and regulates synaptic strength and plasticity.
SAP97 participates in key neuronal signaling cascades:
Key interacting partners include:
SAP97 is implicated in:
SAP97 is expressed throughout the brain with highest expression in:
Targeting SAP97 signaling may offer therapeutic benefits: