QuickView for SLC12A3 (gene)

Gene Symbol:

SLC12A3 Homo sapiens

Full name:

solute carrier family 12 member 3

Synonyms:

NCC, NCCT, TSC, solute carrier family 12 member 3, Na-Cl cotransporter, Na-Cl symporter, NaCl electroneutral thiazide-sensitive cotransporter, solute carrier family 12 (sodium/chloride transporter), member 3, thiazide-sensitive Na-Cl cotransporter, thiazide-sensitive sodium-chloride cotransporter

Genomic Location:

Chr 16: 55456643-55504850

Description:

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 alkalosi...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Bos taurus ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TATAAA_TATA_01 ,  SF1_Q6

Cytogenetic Map:

16q13

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