protein 610 words KG: SYNGAP1PROTEIN
Contents

SynGAP Protein

🔬 Protein Info
Gene SymbolSYNGAP1
Full NameSynaptic Ras GTPase Activating Protein 1
AliasesSYNGAP1PROTEIN
Chromosome6p21.3
Functionis a major postsynaptic density (PSD) protein that regulates Ras signaling and controls AMPA receptor trafficking, making it essential for synaptic plasticity, learning, and memory.
Primary ExpressionBrain (cortex, hippocampus), postsynaptic densities
Subcellular Localization</strong></td><td>Postsynaptic density, cytoplasm</td></tr>
Molecular Weight150 kDa
Amino Acids1343 aa
UniProt ID[Q9ULB0](https://www.uniprot.org/uniprot/Q9ULB0)
Ensembl IDENSG00000197283
OMIM603384
GeneCardsSYNGAP1
Human Protein AtlasSYNGAP1
Intellectual DisabilityHeterozygous loss-of-function mutations cause severe intellectual disability with or without epilepsy. Haploinsufficiency disrupts synaptic plasticity.
Associated Diseasesneurodegeneration
InteractionsERK, RAS, STXBP1
SciDEX HypothesesInterneuron SYNGAP1 Deficiency Disrupts Cortical C
KG Connections18 knowledge graph edges
DatabasesGeneCardsNCBI GeneHPASTRING

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