| Primary Identifier | MGI:107363 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 20910 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables syntaxin-1 binding activity. Involved in presynaptic dense core vesicle exocytosis; synaptic vesicle priming; and vesicle docking involved in exocytosis. Acts upstream of or within several processes, including axon target recognition; chemical synaptic transmission; and negative regulation of synaptic transmission. Located in axon; phagocytic vesicle; and presynaptic active zone membrane. Is active in several cellular components, including parallel fiber to Purkinje cell synapse; presynaptic active zone cytoplasmic component; and presynaptic cytosol. Is extrinsic component of presynaptic membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and sensory organ. Human ortholog(s) of this gene implicated in West syndrome and developmental and epileptic encephalopathy 4. Orthologous to human STXBP1 (syntaxin binding protein 1). PHENOTYPE: Mice homozygous for a null allele exhibit total loss of neurotransmitter secretion from synaptic vesicles throughout development and massive neuron apoptosis after initial synaptogenesis, leading to widespread neurodegeneration and complete neonatal lethality. [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
