| Primary Identifier | MGI:98331 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 20614 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables SNAP receptor activity and syntaxin-1 binding activity. Involved in exocytosis; neurotransmitter receptor internalization; and regulation of neuron projection development. Acts upstream of or within several processes, including associative learning; long-term synaptic potentiation; and neurotransmitter secretion. Located in several cellular components, including presynaptic membrane; synaptic vesicle; and trans-Golgi network. Part of synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex. Is active in glutamatergic synapse. Is expressed in adrenal gland; jaw; nervous system; and sensory organ. Used to study attention deficit hyperactivity disorder; obesity; schizophrenia; and type 2 diabetes mellitus. Human ortholog(s) of this gene implicated in Down syndrome and congenital myasthenic syndrome 18. Orthologous to human SNAP25 (synaptosome associated protein 25). PHENOTYPE: Homozygotes for a targeted null mutation are small size, blotchy in appearance, have dilated vascular channels, and brain defects, lack spontaneous or reflexive movement and evoked neurotransmitter release at E18.5, and die at birth. An ENU-induced mutant displays neurological abnormalities. [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
