solute carrier family 12 member 1; bumetanide-sensitive Na+/K+-chloride cotransporter 2; kidney-specific Na-K-Cl symporter (SLC12A1, NKCC2)

Function

• electrically silent transporter system
• mediates Na+ & chloride reabsorption
• role in regulation of ionic balance & cell volume

Structure

belongs to the SLC12A transporter family

Compartment

membrane

Alternative splicing

named isoforms=3; A,B,F

Expression

kidney specific

Pathology

• defects in SLC12A1 are the cause of Bartter syndrome type 1

More general terms

• transmembrane 12 protein
• glycoprotein
• solute carrier family 12 (SLC12, SLC12A)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6557
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6557
• OMIM: https://mirror.omim.org/entry/600839
• OMIM: https://mirror.omim.org/entry/601678
• UniProt: http://www.uniprot.org/uniprot/Q13621.html