Gene: LOC107984758

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs1555466999 in LOC107984758;SLC12A1 gene and Nephrocalcinosis PMID 28893421 2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.

rs1555466999 in LOC107984758;SLC12A1 gene and Nephrolithiasis PMID 28893421 2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.