| Primary Identifier | MGI:98460 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 20964 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables identical protein binding activity and protein kinase binding activity. Involved in regulation of synaptic vesicle cycle and synaptic vesicle clustering. Acts upstream of or within neurotransmitter secretion. Located in several cellular components, including postsynaptic density; synaptic vesicle membrane; and synaptonemal complex. Is active in several cellular components, including Schaffer collateral - CA1 synapse; cell body; and dendrite. Is expressed in several structures, including intercostal muscle; molar; nervous system; oocyte; and sensory organ. Used to study autism spectrum disorder and epilepsy. Human ortholog(s) of this gene implicated in X-linked epilepsy with variable learning disabilities and behavior disorders and non-syndromic X-linked intellectual disability 50. Orthologous to human SYN1 (synapsin I). PHENOTYPE: Homozygous inactivation of this gene causes impaired CNS synapse formation and synaptic vesicle (SV) clustering, and may lead to altered SV recycling and inhibitory postsynaptic currents, convulsive seizures, increased response to electrical stimulation,and enhanced paired-pulse facilitation. [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
