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.
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 Genetics Topics
- Autosomal dominant sleep-related hypermotor epilepsy — MedlinePlus Genetics
- Familial focal epilepsy with variable foci — MedlinePlus Genetics
Identifiers
- NCBI Gene: 8131
- OMIM: 600928
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
