Entrez gene ID | | 8831 |
Official gene symbol | | SYNGAP1 |
Full name | | synaptic Ras GTPase activating protein 1 homolog (rat) |
Aliases | | ,DKFZp761G1421,KIAA1938,MRD5,RASA1,RASA5,SYNGAP, |
Gene summary | | The protein encoded by this gene is a major component of the postsynaptic density (PSD), a group of proteins found associated with NMDA receptors at synapses. The encoded protein is phosphorylated by calmodulin-dependent protein kinase II and dephosphorylated by NMDA receptor activation. Defects in this gene are a cause of mental retardation autosomal dominant type 5 (MRD5). [provided by RefSeq] |
Location | | Chromosome: 6 Locus: 6p21.3 |
Gene position | | 33387847 - 33421466 Map Viewer |
Gene orientation | | plus |
Gene size | | 33620 bp |
Gene sequence |
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OMIM ID | | 603384 |