Health Topics
Official websites use .gov
A
.gov website belongs to an official government
organization in the United States.
Secure .gov websites use HTTPS
A
lock (
) or https:// means you’ve safely connected to
the .gov website. Share sensitive information only on official,
secure websites.
Normal Function
The DLG4 gene provides instructions for making a protein that plays a role in nerve cells (neurons) in the brain. The DLG4 protein is found at synapses, which are the connections between neurons where cell-to-cell communication occurs. Connected nerve cells act as the "wiring" in the circuitry, carrying signals between the brain and the rest of the body. At synapses, the DLG4 protein interacts with other proteins to regulate a process called synaptic plasticity, which allows synapses to change and adapt over time in response to experiences. Synaptic plasticity is critical for learning and memory.
Health Conditions Related to Genetic Changes
DLG4-related synaptopathy
Variants (also called mutations) in the DLG4 gene cause DLG4-related synaptopathy. This condition affects neurological development and often causes intellectual disabilies, delayed development, movement disorders, and seizures. Most of the variants impair the normal function of the DLG4 protein by decreasing its ability to interact with the other proteins involved in synaptic plasticity or decreasing its ability to help synapses send signals. Other variants prevent the production of any normal DLG4 protein. As a result, synaptic plasticity and other synaptic functions are impaired. The signs and symptoms of DLG4-related synaptopathy are likely caused by the reduced ability of synapses to change and adapt during important periods of brain development.
Other Names for This Gene
- discs large, drosophila, homolog of, 4
- postsynaptic density 95
- PSD95
- SAP90
- synapse-associated protein 90
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Levy AM, Gomez-Puertas P, Tumer Z. Neurodevelopmental Disorders Associated with PSD-95 and Its Interaction Partners. Int J Mol Sci. 2022 Apr 15;23(8):4390. doi: 10.3390/ijms23084390. Citation on PubMed
- Moutton S, Bruel AL, Assoum M, Chevarin M, Sarrazin E, Goizet C, Guerrot AM, Charollais A, Charles P, Heron D, Faudet A, Houcinat N, Vitobello A, Tran-Mau-Them F, Philippe C, Duffourd Y, Thauvin-Robinet C, Faivre L. Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features. Clin Genet. 2018 Jun;93(6):1172-1178. doi: 10.1111/cge.13243. Epub 2018 Apr 14. Citation on PubMed
- Rodriguez-Palmero A, Boerrigter MM, Gomez-Andres D, Aldinger KA, Marcos-Alcalde I, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogne B, Coubes C, de Man SA, Denomme-Pichon AS, Dye TJ, Elmslie F, Feuk L, Garcia-Minaur S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Muller AJ, O'Leary M, Pacio-Miguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schluter A, Schonewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmuller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gomez-Puertas P, Pujol A, Tumer Z. DLG4-related synaptopathy: a new rare brain disorder. Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17. Citation on PubMed
- Vallejo D, Codocedo JF, Inestrosa NC. Posttranslational Modifications Regulate the Postsynaptic Localization of PSD-95. Mol Neurobiol. 2017 Apr;54(3):1759-1776. doi: 10.1007/s12035-016-9745-1. Epub 2016 Feb 16. Citation on PubMed
The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.