Primary Identifier | MGI:88105 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 11928 |
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; phosphatase activity; and transmembrane transporter binding activity. Involved in osmosensory signaling pathway and sodium ion homeostasis. Acts upstream of or within several processes, including negative regulation of glucocorticoid biosynthetic process; positive regulation of striated muscle contraction; and regulation of heart contraction. Located in several cellular components, including T-tubule; basolateral plasma membrane; and postsynaptic density. Is active in plasma membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 2DD. Orthologous to human ATP1A1 (ATPase Na+/K+ transporting subunit alpha 1). PHENOTYPE: Mice homozygous for disruptions in this gene have a lethal phenotype. Heterozygotes display increased anxiety and decreased exploratory behavior in a new environment. [provided by MGI curators] |