NSF Chromosome 17
N-ethylmaleimide sensitive factor, vesicle fusing ATPase
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What This Gene Does
Enables PDZ domain binding activity and ionotropic glutamate receptor binding activity. Involved in intracellular protein transport; positive regulation of protein catabolic process; and positive regulation of receptor recycling. Located in Golgi apparatus; cytosol; and plasma membrane. Implicated in developmental and epileptic encephalopathy 96. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
AAA ATPases
Locus Type
gene with protein product
Location
17q21.31
Ensembl
ENSG00000073969
Associated Conditions (1)
Developmental and epileptic encephalopathy 96
Key Variants
RS376914472
Conflicting classifications of pathogenicity
Health Risk
RS2146261671
Likely pathogenic
Developmental and epileptic encephalopathy 96, Developmental and epileptic encephalopathy 96
Health Risk
RS2146266663
Likely pathogenic
Developmental and epileptic encephalopathy 96, Developmental and epileptic encephalopathy 96, Developmental and epileptic encephalopathy 96
Health Risk
RS2146247619
Pathogenic
Developmental and epileptic encephalopathy 96, Developmental and epileptic encephalopathy 96
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS376914472 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2146261671 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy 96, Developmental and epileptic encephalopathy 96 |
| RS2146266663 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy 96, Developmental and epileptic encephalopathy 96, Developmental and epileptic encephalopathy 96 |
| RS2146247619 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 96, Developmental and epileptic encephalopathy 96 |