25 sources retrieved · Most recent: April 2026 · Index updated 16 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
187PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLEHub GeneTransporter
CLINICALOMIM Disease Gene
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingPDZ domain bindingionotropic glutamate receptor bindinglysosomal membranedevelopmental and epileptic encephalopathy 96neurodegenerative diseaseAbnormality of the skeletal systematrial fibrillation
NSF is an ATPase essential for vesicle-mediated transport and membrane fusion. It catalyzes fusion of transport vesicles within Golgi cisternae and mediates transport from the endoplasmic reticulum to the Golgi stack, functioning as a fusion protein for cargo delivery across all Golgi compartments. NSF also influences AMPAR subunit GLIA2 membrane cycling through protein-protein interactions and regulates receptor recycling at synapses. Based on limited published evidence, NSF is associated with developmental and epileptic encephalopathy 96, suggesting critical roles in neuronal function and development.
⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.
developmental and epileptic encephalopathy 96Open Targets
neurodegenerative diseaseOpen Targets
Abnormality of the skeletal systemOpen Targets
atrial fibrillationOpen Targets
androgenetic alopeciaOpen Targets
functional lateralityOpen Targets
diverticular diseaseOpen Targets
dermatomycosisOpen Targets
dermatophytosisOpen Targets
idiopathic pulmonary fibrosisOpen Targets
smoking initiationOpen Targets
mood disorderOpen Targets
Parkinson diseaseOpen Targets
major depressive disorderOpen Targets
headache disorderOpen Targets
primary biliary cirrhosisOpen Targets
Alstrom syndromeOpen Targets
Developmental and epileptic encephalopathy 96UniProt
NM_006178.4(NSF):c.1688C>T (p.Pro563Leu)Pathogenic
Developmental and epileptic encephalopathy 96|not provided
★★☆☆2025→ Residue 563
NM_006178.4(NSF):c.1590_1592dup (p.Ser531_Asp532insSer)Likely pathogenic
Developmental and epileptic encephalopathy 96
★☆☆☆2025→ Residue 531
NM_006178.4(NSF):c.664G>A (p.Gly222Ser)Pathogenic
Developmental and epileptic encephalopathy 96
★☆☆☆2025→ Residue 222
NM_006178.4(NSF):c.695G>A (p.Arg232Gln)Likely pathogenic
Developmental and epileptic encephalopathy 96
★☆☆☆2025→ Residue 232
NM_006178.4(NSF):c.1688C>G (p.Pro563Arg)Likely pathogenic
Developmental and epileptic encephalopathy 96
★☆☆☆2023→ Residue 563
NM_006178.4(NSF):c.1375G>A (p.Ala459Thr)Pathogenic
Developmental and epileptic encephalopathy 96
☆☆☆☆2021→ Residue 459