| Primary Identifier | MGI:88107 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 232975 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables P-type sodium:potassium-exchanging transporter activity involved in regulation of cardiac muscle cell membrane potential and heparan sulfate proteoglycan binding activity. Involved in several processes, including intracellular sodium ion homeostasis; regulation of cardiac muscle cell membrane potential; and sodium ion export across plasma membrane. Acts upstream of or within several processes, including intracellular signaling cassette; learning or memory; and nervous system development. Located in several cellular components, including neuron to neuron synapse; photoreceptor inner segment; and sarcolemma. Part of sodium:potassium-exchanging ATPase complex. Is active in cell surface. Is expressed in several structures, including alimentary system; early conceptus; gonad; heart; and nervous system. Used to study alternating hemiplegia of childhood and bipolar disorder. Human ortholog(s) of this gene implicated in alternating hemiplegia of childhood; bipolar disorder; developmental and epileptic encephalopathy 99; dystonia 12; and epilepsy. Orthologous to human ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3). PHENOTYPE: Mice homozygous for a mutation in this gene display neonatal lethality. Heterozygous mice display hyperactivity, increased activity in responses to methamphetamine, and impaired spatial learning. Mice heterozygous for an ENU mutation exhibit convulsive and vestibular stress induced seizures. [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
