Rabbit anti-Human SYNGAP1 Polyclonal Antibody

Uniprot Id

Q96PV0

Target Species

Human

Target Name

SYNGAP1

Target Full Name

Ras/Rap GTPase-activating protein SynGAP

Target 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.

Target Involvement

Mental retardation, autosomal dominant 5 (MRD5)

Target Research Area

Neuroscience

Target Synonyms

DKFZp761G1421 ; KIAA1938; MRD5; Neuronal RasGAP; OTTHUMP00000064825; p135 SynGAP; Ras GTPase activating protein SynGAP; Ras GTPase-activating protein SynGAP; RASA 1; RASA 5; RASA1; RASA5; SYGP1_HUMAN; Synaptic Ras GAP 1; Synaptic Ras GTPase activating protein 1; Synaptic Ras GTPase activating protein 1 homolog; Synaptic Ras GTPase activating protein 135kDa; Synaptic Ras GTPase activating protein; Synaptic Ras GTPase-activating protein 1; Synaptic Ras-GAP 1; SYNGAP 1; SYNGAP1

Target Background

This gene encodes a Ras GTPase activating protein that is a member of the N-methyl-D-aspartate receptor complex. The N-terminal domain of the protein contains a Ras-GAP domain, a pleckstrin homology domain, and a C2 domain that may be involved in binding of calcium and phospholipids. The C-terminal domain consists of a ten histidine repeat region, serine and tyrosine phosphorylation sites, and a T/SXV motif required for postsynaptic scaffold protein interaction. The encoded protein negatively regulates Ras, Rap and alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor trafficking to the postsynaptic membrane to regulate synaptic plasticity and neuronal homeostasis. Allelic variants of this gene are associated with intellectual disability and autism spectrum disorder. Alternative splicing results in multiple transcript variants.