Symbol: Name: ID: |
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporters), member 1 GFS:819 |
Gene name: | SLC12A1 |
Chromosome: | 15q15-q21 |
Previous Symbols: | |
Previous Names: | |
Aliases: | NKCC2 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:103150 | Rat Genome Database ID: | RGD:3685 |
HGNC ID: | HGNC:10910 | RefSeq IDs: | NM_000338 |
Entrez Gene ID: | 6557 | Ensembl Gene ID: | ENSG00000074803 |
VEGA IDs: | OTTHUMG00000131495 | UniProt ID: | Q13621 |
UCSC ID: | uc001zwn.3 | OMIM ID: | 600839 |
Pubmed: | PMID8640224 | ||
CCDS IDs: | CCDSCCDS10129.2 |
This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity in humans has not been experimentally proven.
NKCC cotransporters are membrane-bound channels that play a prominent role in a variety of epithelial absorptive and secretory processes and a direct role in cell volume regulation. There are two NKCC isoforms; NKCC1 and NKCC2. NKCC1 is found on almost all cells types and, importantly, is located on the basolateral membrane of secretory epithelia. In contrast NKCC2 is found exclusively in the kidney, specifically on the apical membrane of absorptive epithelia. The NKCC is distinguished from all other transporters by the fact that it transports Na+, K+ and Cl- stoichiometrically by means of a tightly coupled mechanism that can be blocked by loop diuretics.
Products for SLC12A1 gene
Catalog | Product Name | Application | Company |
GFS:E00819 | solute carrier family 12 (sodium/potassium/chloride transporters), member 1; ELISA kit | ELISA | n/a |
GFS:A00819 | solute carrier family 12 (sodium/potassium/chloride transporters), member 1; Anti | ANTIBODIES | n/a |
GFS:P00819 | solute carrier family 12 (sodium/potassium/chloride transporters), member 1; Protien | Protien | n/a |