Health Topics

Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( Lock Locked padlock icon ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

You Are Here:
Home →
Genetics →
Genes →
NPRL3 gene
URL of this page: https://medlineplus.gov/genetics/gene/nprl3/

NPRL3 gene

NPR3 like, GATOR1 complex subunit

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.

Health Conditions Related to Genetic Changes

Autosomal dominant sleep-related hypermotor epilepsy

MedlinePlus Genetics provides information about Autosomal dominant sleep-related hypermotor epilepsy

More About This Health Condition

Familial focal epilepsy with variable foci

Variants (also called mutations) in the NPRL3 gene can cause familial focal epilepsy with variable foci (FFEVF), an uncommon form of recurrent seizures (epilepsy) that runs in families. Most of these variants lead to the production of an abnormally short protein that does not function properly. A reduced amount of functional GATOR1 leads to overactivity of mTORC1 and excessive signaling of the mTOR pathway. Research suggests that increased mTOR pathway signaling in the brain changes the connections between nerve cells (synapses) and increases nerve cell activation (excitation), which can lead to seizures.

More About This Health Condition

Other Names for This Gene

  • 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

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • Kurahashi H, Hirose S. Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. 2002 May 16 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK1169/ Citation on PubMed
  • 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. Citation on PubMed
  • 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. 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.