| Primary Identifier | MGI:1100869 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 11775 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in anterograde synaptic vesicle transport and synaptic vesicle endocytosis. Is active in presynapse. Is expressed in adrenal gland; gut; nervous system; sensory organ; and testis. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 48. Orthologous to human AP3B2 (adaptor related protein complex 3 subunit beta 2). PHENOTYPE: Disruption does not alter pigmentation, but causes hyperactivity and tonic-clonic seizures and mice homozygous for a knock-out allele were found to have significantly reduced synaptic zinc levels throughout the brain, with the largest reduction observed in the CA1 stratum oriens. [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
