Anti-SLC12A3 antibody

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

The SLC12A3 gene encodes the thiazide-sensitive sodium-chloride co-transporter (NCC) also known as solute carrier family 12 member 3. This protein plays an important role in sodium and chloride ion transport across cell membranes in the distal convoluted tubule of the nephron in the kidney influencing electrolyte and fluid balance. It is a membrane protein with a mass of about 108 kDa. SLC12A3 is highly expressed in the kidney specifically localized in the distal convoluted tubule where it contributes to ions balance.

Biological function summary

The activity of SLC12A3 regulates blood pressure and volume homeostasis. It is an integral part of ion transport mechanisms and operates within a network of other transporters and channels in the kidney. The proper function of this transporter balances sodium and chloride reabsorption preventing excessive loss or retention. While not directly forming a complex its activity correlates with the function of other ion transport proteins in maintaining ion balance.

Pathways

The SLC12A3 protein integrates into the renal system's regulation of electrolyte homeostasis. It interacts within the salt-sensitive pathway by influencing the reabsorption of sodium chloride which impacts the renin-angiotensin-aldosterone system (RAAS) indirectly. The activity of SLC12A3 influences blood pressure regulation connecting it functionally with proteins like WNK kinases which modulate its phosphorylation state altering its transport capacity.

Associated diseases and disorders

SLC12A3 mutations lead to Gitelman syndrome a kidney disorder causing hypokalemic alkalosis hypomagnesemia and low blood pressure. Individuals with this disorder have impaired function of the SLC12A3 protein resulting in improper sodium and chloride reabsorption. The disorder connects with the renin-angiotensin pathway which tries to compensate by increasing renin production. It contrasts with conditions involving the CFTR protein which affects ion transport in diseases such as cystic fibrosis but focuses on chloride channels rather than co-transporters.