NPRL3
Chr 16ADNPR3 like, GATOR1 complex subunit
Also known as: C16orf35, CGTHBA, FFEVF3, HS-40, MARE, NPR3, RMD11
The protein functions as a component of the GATOR1 complex that inhibits mTORC1 signaling by acting as a GTPase activating protein for Rag complexes in response to amino acid depletion. Mutations cause familial focal epilepsy with variable foci 3, inherited in an autosomal dominant pattern. The pathogenic mechanism involves disruption of the amino acid-sensing mTORC1 pathway regulation at the lysosomal membrane.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NPRL3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools