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Gene : SLC12A1 Homo sapiens

Name  ? solute carrier family 12 member 1 Cytological Location  15q21.1
Brief Description  solute carrier family 12 member 1
Description  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.[provided by RefSeq, May 2010]
  • synonyms:
  • solute carrier family 12 (sodium/potassium/chloride transporter), member 1,
  • NM_000338,
  • uc001zwn.5,
  • HGNC:10910,
  • BSC1,
  • OTTHUMG00000131495,
  • SLC12A1,
  • NKCC2,
  • NKCC2
  • identifiers:
  • 6557,
  • ENSG00000074803,
  • SLC12A1

Genome feature

Region: gene ? Length: 97777  
Location: 15:48206302-48304078 Cyto location: 15q21.1


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Proteins

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Disease

1 Diseases

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Expression

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Other

825 SN Ps

4 Cross References

18 Data Sets

15 Homologues

0 Located Features

97 Rna Seq Results