NAPB Chromosome 20
NSF attachment protein beta
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What This Gene Does
This gene encodes a member of the soluble N-ethyl-maleimide-sensitive fusion attachment protein (SNAP) family. SNAP proteins play a critical role in the docking and fusion of vesicles to target membranes as part of the 20S NSF-SNAP-SNARE complex. This gene encodes the SNAP beta isoform which has been shown to be preferentially expressed in brain tissue. The encoded protein also interacts with the GluR2 α-amino-3-hydroxy-5-methyl-4-isoxazolepropionate (AMPA) receptor subunit C-terminus and may play a role as a chaperone in the molecular processing of the AMPA receptor. [provided by RefSeq, Mar 2017]
Associated Conditions (3)
Developmental and epileptic encephalopathy-107
Developmental and epileptic encephalopathy
1
Key Variants
RS1983849974
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy-107, Developmental and epileptic encephalopathy, 1
Health Risk
RS1984959750
Pathogenic
Developmental and epileptic encephalopathy-107, Developmental and epileptic encephalopathy-107
Health Risk
RS2515069712
Pathogenic
Developmental and epileptic encephalopathy-107, Developmental and epileptic encephalopathy-107
Health Risk
RS876661300
Pathogenic
Developmental and epileptic encephalopathy-107, Developmental and epileptic encephalopathy-107
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1983849974 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy-107, Developmental and epileptic encephalopathy, 1 |
| RS1984959750 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy-107, Developmental and epileptic encephalopathy-107 |
| RS2515069712 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy-107, Developmental and epileptic encephalopathy-107 |
| RS876661300 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy-107, Developmental and epileptic encephalopathy-107 |