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SLC12A3 solute carrier family 12 (sodium/chloride transporters), member 3 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000339 Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_001126107 Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_001126108 Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $1699.00 25

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Gene Symbol SLC12A3
Entrez Gene ID 6559
Full Name solute carrier family 12 (sodium/chloride transporters), member 3
Synonyms FLJ96318, NCCT, TSC
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

16

16q13

Summary 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. [provided by RefSeq, Jul 2008].
Disorder

MIM: 600968

Gitelman syndrome, 263800 (3)

mRNA Protein Product Sequence Price Select
NM_000339, 186910314 NP_000330, 186910315 solute carrier family 12 member 3 isoform 1 ORF Sequence $1500.00
NM_001126107, 186910316 NP_001119579, 186910317 solute carrier family 12 member 3 isoform 2 ORF Sequence $1500.00
NM_001126108, 186910318 NP_001119580, 186910319 solute carrier family 12 member 3 isoform 3 ORF Sequence $1500.00
Reactome
REACT_19315Cation-coupled Chloride cotransporters
REACT_19397Transport of inorganic cations/anions and amino acids/oligopeptides
REACT_15518Transmembrane transport of small molecules
REACT_19118SLC-mediated transmembrane transport
Homo sapiens (human)SLC12A3NP_000330.2
Pan troglodytes (chimpanzee)SLC12A3XP_510983.2
Macaca mulatta (Rhesus monkey)SLC12A3XP_001093467.2
Canis lupus familiaris (dog)SLC12A3XP_003433878.1
Bos taurus (cattle)SLC12A3NP_001193107.1
Mus musculus (house mouse)Slc12a3NP_001192240.1
Rattus norvegicus (Norway rat)Slc12a3NP_062218.3
Gallus gallus (chicken)SLC12A3XP_414059.3
Danio rerio (zebrafish)slc12a3NP_001038545.1
GeneCards SLC12A3
UniProt P55017
MIM 600968
Ensembl ENSG00000070915
HGNC 10912
HPRD 02984

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
solute carrier family 12 member 3
Names
solute carrier family 12 member 3
Na-Cl symporter
Na-Cl cotransporter
thiazide-sensitive Na-Cl cotransporter
thiazide-sensitive sodium-chloride cotransporter
NaCl electroneutral thiazide-sensitive cotransporter
solute carrier family 12 (sodium/chloride transporters), member 3

Interactant



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