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Target intelligence / Profile preview
Nitrogen permease regulator-like 2 protein (NPRL2)
- Target
- NPRL2
- Molecular classification
- Enzyme, GTPase Activating Protein (GAP)
01
Overview
NPRL2 encodes a protein that is an essential catalytic component of the GATOR1 complex. The primary function of this complex is to inhibit the amino acid-sensing branch of the mTORC1 pathway. In response to amino acid depletion, GATOR1 acts as a GTPase activating protein (GAP) for RagA/B within heterodimeric Rag complexes. Loss or mutation in NPRL2 is associated with Familial Focal Epilepsy With Variable Foci and increased cancer risk. It functions as a tumor suppressor.
- Other names
- TUSC4Tumor suppressor candidate 4NPR2-like proteinGATOR1 complex subunitNPR2NPR2LFFEVF2
02
Mechanism of action
Acts as a GTPase activating protein (GAP) for RagA/B, inhibiting mTORC1 signaling.
03
Biological functions
Negative regulation of TORC1/mTORC1 signalingCellular response to amino acid starvationRegulation of cell growthRegulation of cell proliferationRegulation of cell survivalRegulation of protein synthesis
04
Disease associations
Familial Focal Epilepsy With Variable Foci (FFEVF)Cancer SusceptibilityAutism Spectrum DisordersSudden Unexpected Death in Epilepsy (SUDEP)
05
Safety considerations
Loss or reduced expression linked to increased cell growth and resistance to anticancer drugs.Overactive mTOR signaling in neurons can alter neuronal excitability and lead to epilepsy.
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