| Primary Identifier | MGI:1098749 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 238988 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) A structural constituent of presynaptic active zone. Involved in regulation of calcium-dependent activation of synaptic vesicle fusion; regulation of presynaptic cytosolic calcium ion concentration; and synaptic vesicle priming. Located in synapse. Is active in GABA-ergic synapse; glutamatergic synapse; and presynaptic active zone cytoplasmic component. Is expressed in several structures, including central nervous system; gut; peripheral nervous system ganglion; sensory organ; and urinary system. Orthologous to human ERC2 (ELKS/RAB6-interacting/CAST family member 2). PHENOTYPE: Mice homozygous for targeted disruptions of this gene are viable and fertile. However, homozygotes for one allele display abnormal CNS synaptic transmission. Homozygotes for a second allele display retinal abnormalities and impaired vision. [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
