| Primary Identifier | MGI:88106 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 98660 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable several functions, including ATP binding activity; ATP hydrolysis activity; and alkali metal ion binding activity. Involved in several processes, including cellular response to steroid hormone stimulus; locomotory exploration behavior; and response to auditory stimulus. Acts upstream of or within several processes, including forebrain development; regulation of blood circulation; and regulation of muscle contraction. Located in T-tubule; cell projection; and neuronal cell body. Part of protein-containing complex. Is active in cell surface; endoplasmic reticulum; and plasma membrane. Is expressed in several structures, including genitourinary system; heart; musculature; nervous system; and sensory organ. Used to study familial hemiplegic migraine 2. Human ortholog(s) of this gene implicated in alternating hemiplegia of childhood; electroclinical syndrome (multiple); hypertension; and migraine with aura (multiple). Orthologous to human ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2). PHENOTYPE: Homozygous mutants die immediately after birth from breathing failure, lack spontaneous respiratory rhythm activity, have elevated levels of extracellular GABA in the brain, and have abnormal chloride homeostasis in brainstem neurons. [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
