| Primary Identifier | MGI:1889383 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 108012 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable clathrin adaptor activity. Involved in synaptic vesicle budding from endosome. Acts upstream of or within several processes, including adipose tissue development; fat cell differentiation; and visual learning. Predicted to be located in Golgi apparatus. Predicted to be part of AP-1 adaptor complex. Predicted to be active in intracellular membrane-bounded organelle. Is expressed in mesonephros; neocortex; and urinary system. Used to study syndromic X-linked intellectual disability 5. Human ortholog(s) of this gene implicated in syndromic X-linked intellectual disability 5. Orthologous to human AP1S2 (adaptor related protein complex 1 subunit sigma 2). PHENOTYPE: Targeted inactivation of the sigma1B isoform results in impaired synaptic vesicle recycling, hypoactivity, impaired balance, deficits in long-term spatial memory, lipodystrophy, and abnormal adipocyte differentiation. [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
