SYNGAP1

Causes

What gene changes cause SYNGAP1?

Changes or mutations in the SYNGAP1 gene cause the range of health and intellectual issues seen in SYNGAP1. These changes in the gene prevent the gene from making a working SynGAP protein. Without a working SynGAP protein, the nerves cells don't form or function correctly. Some studies have found that too little SynGAP protein results in problems with the transmission of nerve signals from one cell to another which interrupts the brain's ability to learn and remember things.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/syngap1/causes/48631 • DATE UPDATED: 2016-10-18

References

NORD disease summary "SYNGAP1-related NSID" https://rarediseases.org/rare-diseases/syngap1-related-nsid/

Genetics Home Reference "SYNGAP1 gene" https://ghr.nlm.nih.gov/gene/SYNGAP1#conditions

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