Entity Details

Primary name NPRL3
Entity type gene
Source Source Link

Details

PrimaryID8131
RefseqGeneNG_029669
SymbolNPRL3
NameNPR3 like, GATOR1 complex subunit
Chromosome16
Location16p13.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-02-20
ModificationDate2021-06-13

Ontological Relatives

UniProt IDsNPRL3_HUMAN

GO terms

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GOName
GO:0003281 ventricular septum development
GO:0005096 GTPase activator activity
GO:0005765 lysosomal membrane
GO:0032007 negative regulation of TOR signaling
GO:0034198 cellular response to amino acid starvation
GO:0035909 aorta morphogenesis
GO:0038202 TORC1 signaling
GO:0043547 positive regulation of GTPase activity
GO:0048738 cardiac muscle tissue development
GO:0060021 roof of mouth development
GO:1990130 GATOR1 complex
GO:2000785 regulation of autophagosome assembly

Diseases

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Disease IDSourceNameDescription
617118 OMIMEpilepsy, familial focal, with variable foci 3 (FFEVF3)An autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy, frontal lobe epilepsy, and nocturnal frontal lobe epilepsy. Some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. A subset of patients have structural brain abnormalities. Penetrance of the disorder is incomplete. The disease is caused by variants affecting the gene represented in this entry.