SLC12A1 solute carrier family 12 member 1
Gene ID: 6557, updated on 17-Mar-2024Gene type: protein coding
Also known as: BSC; BSC1; CCC2; BSC-1; NKCC2
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC12A1
- Go to Variation Viewer for SLC12A1 variants
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.[provided by RefSeq, May 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Bartter disease type 1 | See labs |
| Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. GeneReviews: Not available |
Genomic context
- Location:
- 15q21.1
- Sequence:
- Chromosome: 15; NC_000015.10 (48206302..48304078)
- Total number of exons:
- 29
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC12A1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SLC12A1 database
- Variation ViewerRelated Variants
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