The DEPDC5 gene provides instructions for making a protein that is part of a larger group of proteins (a complex) called GATOR1. This complex is made up of the DEPDC5 protein and proteins made from two other genes: NPRL2 and NPRL3. 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 GATOR1 complex blocks this pathway by stopping (inhibiting) the activity of a complex called mTOR complex 1 (mTORC1) that is integral to the mTOR pathway.
Other Names
DEE111; DEP domain containing 5; DEP.5; FFEVF; FFEVF1; FPEVF; KIAA0645
Related Genetics Topics
- Autosomal dominant epilepsy with auditory features — MedlinePlus Genetics
- Autosomal dominant sleep-related hypermotor epilepsy — MedlinePlus Genetics
- Familial focal epilepsy with variable foci — MedlinePlus Genetics
Identifiers
- NCBI Gene: 9681
- OMIM: 614191
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
