Solute Carrier Family 12 (Sodium/Chloride Transporter), Member 3

Alternative Names

  • SLC12A3
  • Sodium-Chloride Cotransporter, Thiazide-Sensitive
  • NCCT
  • Thiazide-Sensitive Na-Cl Cotransporter
  • TSC
  • Sodium-Chloride Cotransporter
  • NCC

Associated Diseases

Gitelman Syndrome
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OMIM Number

600968

NCBI Gene ID

6559

Uniprot ID

P55017

Length

50,644 bases

No. of Exons

26

No. of isoforms

3

Protein Name

Solute carrier family 12 member 3

Molecular Mass

113139 Da

Amino Acid Count

1021

Genomic Location

chr16:56,865,206-56,915,849

Gene Map Locus
16q13

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 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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001126108.2:c.1670-191C>TUnited Arab EmiratesNC_000016.10:g.56883858C>TPathogenicPathogenicGitelman SyndromeNG_009386.2:g.23652C>T; NM_001126108.2:c.1670-191C>T; NP_001119580.2:p.?374182921665361
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