SYNGAP1

The C2 domain is required for RapGAP activity.

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).

Intellectual developmental disorder, autosomal dominant 5

MRD5

A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD5 patients show global developmental delay with delayed motor development, hypotonia, moderate-to-severe intellectual disability, and severe language impairment. Epilepsy and autism can be present in some patients.

None

The disease is caused by variants affecting the gene represented in this entry.

Phosphorylated by CaM-kinase II. Dephosphorylated upon NMDA receptor activation or SYNGAP1/MPDZ complex disruption. Phosphorylation by PLK2 promotes its activity (By similarity).

KIAA1938, SYNGAP1, Ras/Rap GTPase-activating protein SynGAP, Neuronal RasGAP, Synaptic Ras GTPase-activating protein 1, Synaptic Ras-GAP 1

• entrezGene:8831
• omim:603384
• swissprot:Q96PV0

Proteins

Neuroscience

148284Da