Primary Identifier | MGI:2443511 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 236794 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables potassium:proton antiporter activity and sodium:proton antiporter activity. Involved in regulation of intracellular pH and regulation of postsynaptic membrane neurotransmitter receptor levels. Acts upstream of or within several processes, including brain-derived neurotrophic factor receptor signaling pathway; dendritic spine development; and regulation of neurotrophin TRK receptor signaling pathway. Located in several cellular components, including axon; dendrite; and endosome. Is active in Schaffer collateral - CA1 synapse and glutamatergic synapse. Is expressed in several structures, including central nervous system; eye; genitourinary system; gut; and immune system. Used to study Christianson syndrome. Human ortholog(s) of this gene implicated in Christianson syndrome. Orthologous to human SLC9A6 (solute carrier family 9 member A6). PHENOTYPE: Male mice hemizygous for a targeted mutation display hyperactivity and susceptibility to pharmacologically induced seizures. [provided by MGI curators] |