Rabbit anti-Human SLC12A3 Polyclonal Antibody

Uniprot Id

P55017

Target Species

Human

Target Name

SLC12A3

Target Full Name

Solute carrier family 12 member 3

Target Function

Electroneutral sodium and chloride ion cotransporter. In kidney distal convoluted tubules, key mediator of sodium and chloride reabsorption. Receptor for the proinflammatory cytokine IL18. Contributes to IL18-induced cytokine production, including IFNG, IL6, IL18 and CCL2. May act either independently of IL18R1, or in a complex with IL18R1.

Target Involvement

Gitelman syndrome (GTLMNS)

Target Subcellular Location

Cell membrane; Multi-pass membrane protein. Apical cell membrane; Multi-pass membrane protein.

Target Protein Families

SLC12A transporter family

Target Tissue Specificity

Predominantly expressed in the kidney (at protein level). Localizes to the distal convoluted tubules (at protein level)(PubMed:29993276). Not detected in normal aorta, but abundantly expressed in fatty streaks and advanced atherosclerotic lesions (at prot

Target Synonyms

FLJ96318; Na Cl cotransporter; Na Cl symporter; Na-Cl symporter; NaCl electroneutral thiazide sensitive cotransporter; NCC; NCCT; S12A3_HUMAN; slc12a3; Solute carrier family 12 (sodium/chloride transporters) member 3; Solute carrier family 12 member 3; Thiazide sensitive Na Cl cotransporter; Thiazide sensitive sodium chloride cotransporter; Thiazide-sensitive sodium-chloride cotransporter; TSC

Target Background

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.