SLC12A3

This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Description

Solute carrier family 12 member 3

Tissue specificity

Tissue enriched (kidney)

Predicted location

Membrane

Protein family

Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Plasma proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Transporters

Chromosome

16 (56865207 - 56915850)

Ensembl ID

ENSG00000070915  (ver. 103.38)

Orthologs

Mouse Slc12a3: ENSMUSG00000031766

UniProt

P55017

neXtProt

NX_P55017

Human splice variants
Mouse splice variants

Protein structure