| Primary Identifier | MGI:3051532 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 382018 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables calmodulin binding activity and diacylglycerol binding activity. Involved in several processes, including positive regulation of glutamate receptor signaling pathway; positive regulation of synaptic plasticity; and regulated exocytosis. Acts upstream of or within several processes, including chemical synaptic transmission; modulation of chemical synaptic transmission; and synaptic vesicle maturation. Located in axon; neuromuscular junction; and presynapse. Is active in calyx of Held; glutamatergic synapse; and presynaptic active zone. Is expressed in nervous system and neural retina. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis. Orthologous to human UNC13A (unc-13 homolog A). PHENOTYPE: Homozygous mutant mice do not feed and die within hours of birth and synaptic vesicle maturation is impaired. Mice homozygous for a knock-in allele exhibit slower rate of synaptic vesicle replenishment, aberrant short-term depression and reduced recovery from synaptic depression. [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
