Aliases for SYNGAP1 Gene
- Synaptic Ras GTPase Activating Protein 1 2 3
- Synaptic Ras GTPase-Activating Protein 1 3 4
- Neuronal RasGAP 3 4
- MRD5 3 6
- Synaptic Ras GTPase Activating Protein 1 Homolog (Rat) 2
- Synaptic Ras GTPase Activating Protein 1 Homolog 3
- Synaptic Ras GTPase Activating Protein, 135kDa 3
- Ras/Rap GTPase-Activating Protein SynGAP 3
External Ids for SYNGAP1 Gene
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, Dec 2009]
GeneCards Summary for SYNGAP1 Gene
SYNGAP1 (Synaptic Ras GTPase Activating Protein 1) is a Protein Coding gene. Diseases associated with SYNGAP1 include autosomal dominant non-syndromic intellectual disability. Among its related pathways are Signaling by FGFR and Signaling by FGFR. GO annotations related to this gene include phospholipid binding. An important paralog of this gene is RASA2.
UniProtKB/Swiss-Prot for SYNGAP1 Gene
Major constituent of the PSD essential for postsynaptic signaling. Inhibitory regulator of the Ras-cAMP pathway. Member of the NMDAR signaling complex in excitatory synapses, it may play a role in NMDAR-dependent control of AMPAR potentiation, AMPAR membrane trafficking and synaptic plasticity. Regulates AMPAR-mediated miniature excitatory postsynaptic currents. Exhibits dual GTPase-activating specificity for Ras and Rap. May be involved in certain forms of brain injury, leading to long-term learning and memory deficits (By similarity).