| Primary Identifier | MGI:104562 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 17957 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables syntaxin binding activity. Involved in regulation of synaptic vesicle priming. Acts upstream of or within SNARE complex disassembly and glutamatergic synaptic transmission. Located in myelin sheath. Part of synaptobrevin 2-SNAP-25-syntaxin-1a complex. Is active in glutamatergic synapse. Is expressed in central nervous system; liver; peripheral nervous system ganglion; retina nuclear layer; and testis. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 107. Orthologous to human NAPB (NSF attachment protein beta). PHENOTYPE: Mice homozygous for a knock-out allele exhibit seizures, ataxia, abnormal synaptic vesicle priming, and premature death. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
