| Primary Identifier | MGI:2141861 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 232910 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable clathrin adaptor activity. Predicted to be involved in postsynaptic neurotransmitter receptor internalization and synaptic vesicle endocytosis. Predicted to act upstream of or within endocytosis. Part of AP-2 adaptor complex. Is active in synapse. Human ortholog(s) of this gene implicated in familial hypocalciuric hypercalcemia 3. Orthologous to human AP2S1 (adaptor related protein complex 2 subunit sigma 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased embryo size, a rudimentary egg cylinder, failure of primitive streak formation, absent primitive node and head folds, failure to gastrulate, and complete lethality prior to organogenesis. [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
