| Primary Identifier | MGI:99422 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 19400 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables acetylcholine receptor binding activity and protein-macromolecule adaptor activity. A structural constituent of postsynaptic specialization. Involved in neurotransmitter receptor localization to postsynaptic specialization membrane and skeletal muscle acetylcholine-gated channel clustering. Acts upstream of or within positive regulation of motor neuron apoptotic process. Located in Golgi apparatus; plasma membrane; and synapse. Is active in neuromuscular junction and postsynaptic specialization membrane. Is expressed in several structures, including central nervous system; embryo mesenchyme; forelimb bud; limb; and skeletal musculature. Used to study congenital myasthenic syndrome 11. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 11 and fetal akinesia deformation sequence syndrome 2. Orthologous to human RAPSN (receptor associated protein of the synapse). PHENOTYPE: Homozygotes for a targeted null mutation exhibit absence of acetylcholine receptor clusters at end plate band of neuromuscular synapses, muscle weakness, and respiratory distress leading to lethality within hours of birth. [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
