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The official name of this gene is “synaptic Ras GTPase activating protein 1.”
SYNGAP1 is the gene's official symbol. The SYNGAP1 gene is also known by other names, listed below.
The protein encoded by this gene is a major component of the postsynaptic density (PSD), a group of proteins found associated with NMDA receptors at synapses. The encoded protein is phosphorylated by calmodulin-dependent protein kinase II and dephosphorylated by NMDA receptor activation. Defects in this gene are a cause of mental retardation autosomal dominant type 5 (MRD5). [provided by RefSeq, Dec 2009]
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.
NOTE: UniProt (SYGP1_HUMAN) (http://www.uniprot.org/uniprot/Q96PV0) suggests using caution when interpreting this information.
Mental retardation, 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 mental retardation, and severe language impairment. Epilepsy and autism can be present in some patients. The disease is caused by mutations affecting the gene represented in this entry.
|612621 (http://omim.org/entry/612621)||MENTAL RETARDATION, AUTOSOMAL DOMINANT 5|
|603384 (http://omim.org/entry/603384)||SYNAPTIC RAS-GTPase-ACTIVATING PROTEIN 1|
Cytogenetic Location: 6p21.3
Molecular Location on chromosome 6: base pairs 33,420,070 to 33,453,689
The SYNGAP1 gene is located on the short (p) arm of chromosome 6 at position 21.3.
More precisely, the SYNGAP1 gene is located from base pair 33,420,070 to base pair 33,453,689 on chromosome 6.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about SYNGAP1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
autism ; autosomal ; autosomal dominant ; developmental delay ; epilepsy ; gene ; hypotonia ; injury ; kinase ; mental retardation ; Met ; methionine ; motor ; plasticity ; protein ; receptor ; specificity
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.