SLC12A2


Description

The SLC12A2 (solute carrier family 12 member 2) is a protein-coding gene located on chromosome 5.

SLC12A2 is the gene for the Na–K–Cl cotransporter (NKCC1), a protein involved in the secondary active transport of sodium, potassium, and chloride into cells. There are two isoforms of NKCC1, which differ in whether they retain or skip exon 21 in the final gene product. NKCC1 is present throughout the body, particularly in organs that secrete fluids, including the kidney. In the kidney, it is involved in reabsorbing sodium, potassium, and chloride from urine into the bloodstream. NKCC1 proteins are membrane transport proteins that move sodium (Na), potassium (K), and chloride (Cl) ions across the cell membrane. These transport proteins maintain electroneutrality by moving two positively charged solutes (sodium and potassium) alongside two parts of a negatively charged solute (chloride) with a stoichiometry of 1Na:1K:2Cl. Although squid giant axons are the only notable exception with a stoichiometry of 2Na:1K:3Cl, electroneutrality across the protein transporter is still maintained.

SLC12A2, also known as NKCC1, is a cation-chloride cotransporter that facilitates the movement of chloride, potassium, and sodium ions across cell membranes in a neutral fashion. This transport process is crucial for maintaining proper ionic balance and cell volume. This function is supported by a variety of studies (PubMed:32081947, PubMed:33597714, PubMed:32294086, PubMed:7629105, PubMed:16669787).

SLC12A2 is also known as BSC, BSC-2, BSC2, CCC1, KILQS, NKCC1, PPP1R141.

Associated Diseases


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