Slc12a1 solute carrier family 12, member 1 [ Mus musculus (house mouse) ]
Source: NCBI Gene (ID 20495)
Symbol: Slc12a1
Full name: solute carrier family 12, member 1
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Also known as: D630042G03Rik; Nkcc2; mBSC1; urehr3
Summary: Enables sodium:potassium:chloride symporter activity. Acts upstream of or within several processes, including cellular hyperosmotic salinity response; excretion; and positive regulation of calcineurin-NFAT signaling cascade. Located in apical plasma membrane. Is expressed in several structures, including alimentary system and urinary system. Used to study Bartter disease type 1. Human ortholog(s) of this gene implicated in Bartter disease and Bartter disease type 1. Orthologous to human SLC12A1 (solute carrier family 12 member 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward kidney adult (RPKM 70.5)
Orthologs: human
Gene size: 77493bp
Exon count: 29