Symbol: Name: ID: |
SLC12A3 solute carrier family 12 (sodium/chloride transporters), member 3 GFS:821 |
Gene name: | SLC12A3 |
Chromosome: | 16q13 |
Previous Symbols: | |
Previous Names: | |
Aliases: | |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:108114 | Rat Genome Database ID: | RGD:3686 |
HGNC ID: | HGNC:10912 | RefSeq IDs: | NM_000339 |
Entrez Gene ID: | 6559 | Ensembl Gene ID: | ENSG00000070915 |
VEGA IDs: | OTTHUMG00000133284 | UniProt ID: | P55017 |
UCSC ID: | uc002ekd.3 | OMIM ID: | 600968 |
Pubmed: | PMID8812482 | ||
CCDS IDs: | CCDSCCDS10770.1 CCDS CCDS45491.1 |
SLC12A3 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].
Function: Electrically silent transporter system. Mediates sodium and chloride reabsorption.
Products for SLC12A3 gene
Catalog | Product Name | Application | Company |
GFS:E00821 | solute carrier family 12 (sodium/chloride transporters), member 3; ELISA kit | ELISA | n/a |
GFS:A00821 | solute carrier family 12 (sodium/chloride transporters), member 3; Anti | ANTIBODIES | n/a |
GFS:P00821 | solute carrier family 12 (sodium/chloride transporters), member 3; Protien | Protien | n/a |