Primary Identifier | MGI:1930705 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 56216 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein kinase binding activity and signaling receptor binding activity. Involved in several processes, including modulation of chemical synaptic transmission; negative regulation of synaptic vesicle recycling; and neurotransmitter secretion. Located in axon; plasma membrane; and presynapse. Is active in neuromuscular junction and presynaptic active zone membrane. Is expressed in forebrain and retina layer. Human ortholog(s) of this gene implicated in generalized epilepsy with febrile seizures plus 9. Orthologous to human STX1B (syntaxin 1B). PHENOTYPE: Mice homozygous for a reporter allele that encodes an 'open' syntaxin-1B protein conformation are viable but display severe ataxia, reduced chromaffin vesicle docking, accelerated synaptic vesicle fusion, and lethal epileptic seizures after 2 weeks of age. [provided by MGI curators] |