SYNGAP1 FISH Probe

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. [provided by RefSeq, Nov 2016]


Gene Details
SKU Test Kits Buffer Dye Color Order Now
SYNGAP1-20-RE 20 (40 μL) 200 μL color Request Pricing
SYNGAP1-20-OR 20 (40 μL) 200 μL color Request Pricing
SYNGAP1-20-GO 20 (40 μL) 200 μL color Request Pricing
SYNGAP1-20-GR 20 (40 μL) 200 μL color Request Pricing
SYNGAP1-20-AQ 20 (40 μL) 200 μL color Request Pricing

Gene Summary

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. [provided by RefSeq, Nov 2016]

Gene Details

Gene Symbol : SYNGAP1

Gene Name : Synaptic Ras GTPase activating protein 1

Chromosome : CHR 6: 334,200,69-334,536,88

Locus : 6p21.32

Alt. Genes : AKAP9

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