Gene: SLC12A1
Alternate names for this Gene: BSC1|NKCC2
Gene Summary: 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.
Gene is located in Chromosome: 15
Location in Chromosome : 15q21.1
Description of this Gene: solute carrier family 12 member 1
Type of Gene: protein-coding
Gene: LOC107984758
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
rs137853157 in
SLC12A1;LOC107984758 gene and
Bartter syndrome, antenatal type 1
PMID 8640224 1996 Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2.
PMID 20219833 2010 Long-term follow-up of patients with Bartter syndrome type I and II.
PMID 28095294 2017 A novel SLC12A1 gene mutation associated with hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis in four patients.
PMID 12761241 2003 Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters.
PMID 9585600 1998 Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.