| Primary Identifier | MGI:88026 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 11735 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables transmembrane transporter binding activity. Involved in several processes, including cellular response to magnesium ion; magnesium ion homeostasis; and neuronal action potential. Acts upstream of or within axon guidance; protein localization to axon; and synapse organization. Located in several cellular components, including intercalated disc; main axon; and synapse. Is active in postsynaptic density. Is expressed in several structures, including central nervous system and heart. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder 37; bipolar disorder; and schizophrenia. Orthologous to human ANK3 (ankyrin 3). PHENOTYPE: Homozygotes for a mutation that selectively ablates gene expression in brain exhibit progressive ataxia, tremors, and a substantially reduced cerebellum deficient in Purkinje cells. Mutants are poor breeders and die by 4-6 months. [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
