Recombinant Human Ras GTPase-activating protein SynGAP (SYNGAP1), partial

Function

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)

Disease Association

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

Subunit

Interacts with KLHL17, CAMK2A and CAMK2B (By similarity). Interacts with MPDZ (PubMed:15312654). Interacts with FAM81A; the interaction facilitates condensate formation via liquid-liquid phase separation (By similarity)

• Nagase T. et al. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. — DNA Res. (2001)
• Mungall A.J. et al. The DNA sequence and analysis of human chromosome 6. — Nature (2003)
• Bechtel S. et al. The full-ORF clone resource of the German cDNA consortium. — BMC Genomics (2007)
• Krapivinsky G. et al. SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation. — Neuron (2004)
• Hamdan F.F. et al. Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. — N. Engl. J. Med. (2009)
• Vissers L.E. et al. A de novo paradigm for mental retardation. — Nat. Genet. (2010)
• Hamdan F.F. et al. De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. — Biol. Psychiatry (2011)
• Berryer M.H. et al. Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. — Hum. Mutat. (2013)