NPR3 like, GATOR1 complex subunit
Dernière mise à jour 14 août 2025
Respecte les directives éditoriales
- TéléchargerTélécharger
- Partager
- Language
- Discussion
- Version audio
- Ajouter aux sources préférées sur Google
The NPRL3 gene provides instructions for making a protein that is part of a larger protein group (a complex) called GATOR1. This complex is made up of the NPRL3 protein and proteins made from two other genes: DEPDC5 and NPRL2. GATOR1 is found in cells throughout the body, where it regulates a signaling pathway called the mTOR pathway. The mTOR pathway is involved in cell growth and division (proliferation) and the creation (synthesis) of new proteins. In the brain, the mTOR pathway regulates many processes, including the growth and development of nerve cells and their ability to change and adapt over time (plasticity).
Normal function
The NPRL3 gene provides instructions for making a protein that is part of a larger protein group (a complex) called GATOR1. This complex is made up of the NPRL3 protein and proteins made from two other genes: DEPDC5 and NPRL2. GATOR1 is found in cells throughout the body, where it regulates a signaling pathway called the mTOR pathway. The mTOR pathway is involved in cell growth and division (proliferation) and the creation (synthesis) of new proteins. In the brain, the mTOR pathway regulates many processes, including the growth and development of nerve cells and their ability to change and adapt over time (plasticity).
The role of the GATOR1 complex is to block this pathway by stopping (inhibiting) the activity of a complex called mTOR complex 1 (mTORC1) that is integral to the mTOR pathway.
Conditions referring to this gene or chromosome
Other names
C16orf35
CGTHBA
chromosome 16 open reading frame 35
HS-40
MARE
nitrogen permease regulator-like 3 (S. cerevisiae)
NPR3
NPR3-like, GATOR1 complex subunit
RMD11
Related patient information and medicines
%20vaccination/og.png)
Patient information leaflet
Vaccination contre le virus respiratoire syncytial (VRS)
Around 20 to 30 children a year die from RSV infections in the UK. RSV infection also causes more severe lung infections in older people, and often causes them to be admitted to hospital. The RSV vaccine used in the UK is Abrysvo. This is a subunit vaccine, which means it contains purified parts of the RSV virus. The vaccine trains the immune.
Patient information leaflet
Pédicurie
Podiatry is a plus modern name pour chiropody but there is essentially no difference between a chiropodist and podiatrist. What is podiatry. Podiatry is a specialist area of healthcare that provides prevention, diagnosis, treatment and advice for a wide range of conditions affecting the feet and lower limbs. What is a podiatrist. A podiatrist is a.
Patient information leaflet
Puis-je prendre Royal sun et Shiitake ensemble ?
Les deux Royal Sun (Agaricus blazei) et Shiitake (Lentinula edodes) mushrooms contain high levels of beta-glucans, which are substances that stimulate the immune system. Taking them together may cause your immune system to become overactive. Both mushrooms can lower blood sugar levels and thin the blood. Taking them together might increase the risk.
/og.png)
Patient information leaflet
Syndrome douloureux régional complexe (SDRC)
Complex regional pain syndrome is a debilitating, painful condition in a limb, associated with nerve, skin and bone abnormalities. The condition often follows an injury to that limb. However, there is no relationship to the severity of the injury, and in some cases there is no history of any injury. It usually affects one limb, but can later.
Patient information leaflet
Puis-je prendre du Ramipril et du complexe de vitamine B ensemble ?
There is no known significant interaction between ... It is generally considered safe to take these together. Why this happens Ramipril is an ACE inhibitor used for blood pressure, while Vitamin B complex contains water-soluble vitamins (such as B1, B2, B6, B12, and folic acid). These substances are processed by the body through different pathways.
Patient information leaflet
Puis-je prendre Reishi et queue de dinde ensemble ?
Combining them might increase the chance of thinning your blood or over-stimulating your immune system, though this is rarely a problem for healthy people. Why this happens Both reishi (Ganoderma lucidum) and turkey tail (Trametes versicolor) contain bioactive compounds called polysaccharides (like beta-glucans) that modulate the immune system..
Lectures complémentaires et références
- NPR3 like, GATOR1 complex subunit; MedlinePlus, National Library of Medicine.
- Baldassari S, Licchetta L, Tinuper P, Bisulli F, Pippucci T. GATOR1 complex: the common genetic actor in focal epilepsies. J Med Genet. 2016 Aug;53(8):503-10. doi: 10.1136/jmedgenet-2016-103883. Epub 2016 May 19.
- Baulac S. mTOR signaling pathway genes in focal epilepsies. Prog Brain Res. 2016;226:61-79. doi: 10.1016/bs.pbr.2016.04.013. Epub 2016 Jun 7.
- Kurahashi H, Hirose S. Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. 2002 May 16 [updated 2023 Mar 23]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1169/
- Sim JC, Scerri T, Fanjul-Fernandez M, Riseley JR, Gillies G, Pope K, van Roozendaal H, Heng JI, Mandelstam SA, McGillivray G, MacGregor D, Kannan L, Maixner W, Harvey AS, Amor DJ, Delatycki MB, Crino PB, Bahlo M, Lockhart PJ, Leventer RJ. Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3. Ann Neurol. 2016 Jan;79(1):132-7. doi: 10.1002/ana.24502. Epub 2015 Dec 12.
- Weckhuysen S, Marsan E, Lambrecq V, Marchal C, Morin-Brureau M, An-Gourfinkel I, Baulac M, Fohlen M, Kallay Zetchi C, Seeck M, de la Grange P, Dermaut B, Meurs A, Thomas P, Chassoux F, Leguern E, Picard F, Baulac S. Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia. Epilepsia. 2016 Jun;57(6):994-1003. doi: 10.1111/epi.13391. Epub 2016 May 13.
Historique de l'article
Article également disponible en Anglais, Allemand, Espagnol, Français, Italien, Portugais, Hindi, Hébreu, Arabe, and Suédois.
14 août 2025 | Dernière version
1 mars 2017 | Publié à l'origine
Participez à la conversation
Partagez vos pensées ou expériences avec les autres dans notre communautés de patients.
Demandez, partagez, connectez-vous.
Parcourez les discussions, posez des questions et partagez vos expériences sur des centaines de sujets de santé.
Inscrivez-vous à la newsletter Patient
Votre dose hebdomadaire de conseils de santé clairs et fiables - rédigés pour vous aider à vous sentir informé, confiant et maître de la situation.
En vous abonnant, vous acceptez notre Politique de confidentialité. Vous pouvez vous désabonner à tout moment. Nous ne vendons jamais vos données.