| Gene Symbol | SYNGAP1 |
| Full Name | Related Epilepsy |
| Chromosome | 6p21.3 |
| Function | is a major postsynaptic density (PSD) protein that regulates Ras signaling and controls AMPA receptor trafficking, making it essential for synaptic plasticity, learning, and memory. |
| Primary Expression | Brain (cortex, hippocampus), postsynaptic densities |
| Molecular Weight | 150 kDa |
| Amino Acids | 1343 aa |
| UniProt ID | [Q9ULB0](https://www.uniprot.org/uniprot/Q9ULB0) |
| Ensembl ID | ENSG00000197283 |
| OMIM | 603384 |
| GeneCards | SYNGAP1 |
| Human Protein Atlas | SYNGAP1 |
| Early development | Often normal or near-normal in the first 6 months |
| Global developmental delay | Evident by age 2-3 years |
| Intellectual disability | Severe to profound in ~70%, moderate in ~25% |
| Associated Diseases | neurodegeneration |
| Interactions | ERK, RAS, STXBP1 |
| SciDEX Hypotheses | Interneuron SYNGAP1 Deficiency Disrupts Cortical C |
| KG Connections | 18 knowledge graph edges |
| Databases | GeneCardsNCBI GeneHPASTRING |
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