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Genetics Home Reference: your guide to understanding genetic conditions
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SYNGAP1

The information on this page was automatically extracted from online scientific databases.

What is the official name of the SYNGAP1 gene?

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.

What is the normal function of the SYNGAP1 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/8831):

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]

From UniProt (SYGP1_HUMAN) (http://www.uniprot.org/uniprot/Q96PV0):

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.

How are changes in the SYNGAP1 gene related to health conditions?

UniProt (SYGP1_HUMAN) (http://www.uniprot.org/uniprot/Q96PV0) provides the following information about the SYNGAP1 gene's known or predicted involvement in human disease.

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.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/8831) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the SYNGAP1 gene.
  • Mental retardation, autosomal dominant 5
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the SYNGAP1 gene and its association with health conditions.
OMIM
Number
Title

Where is the SYNGAP1 gene located?

Cytogenetic Location: 6p21.3

Molecular Location on chromosome 6: base pairs 33,420,070 to 33,453,689

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/8831))

The SYNGAP1 gene is located on the short (p) arm of chromosome 6 at position 21.3.

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.

Where can I find additional information about SYNGAP1?

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.

What other names do people use for the SYNGAP1 gene or gene products?

  • MRD5
  • RASA1
  • RASA5
  • SYNGAP

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding SYNGAP1?

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.

 
Published: February 1, 2016