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 8.0.0) Enables transmembrane transporter binding activity. Involved in several processes, including cellular response to magnesium ion; negative regulation of delayed rectifier potassium channel activity; 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; heart; retina inner plexiform layer; skeletal muscle; and urinary system. 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] |