| Primary Identifier | MGI:1916267 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 69017 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables syntaxin-1 binding activity. Involved in negative regulation of short-term synaptic potentiation; regulation of vesicle fusion; and synaptic vesicle fusion to presynaptic active zone membrane. Located in axon terminus; plasma membrane; and synaptic vesicle. Is active in glutamatergic synapse and presynaptic membrane. Is expressed in brain and spinal cord. Used to study episodic kinesigenic dyskinesia 1. Human ortholog(s) of this gene implicated in benign familial infantile seizures 2 and episodic kinesigenic dyskinesia 1. Orthologous to human PRRT2 (proline rich transmembrane protein 2). PHENOTYPE: Mice homozygous for a knock-out allele develop paroxysmal movements (bouncing and back walking) at the onset of locomotion and exhibit wild running and jumping in response to audiogenic stimuli and an increased sensitivity to the convulsive effects of pentylentetrazol. [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
