Gene: SLC12A3
Alternate names for this Gene: NCC|NCCT|TSC
Gene Summary: 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.
Gene is located in Chromosome: 16
Location in Chromosome : 16q13
Description of this Gene: solute carrier family 12 member 3
Type of Gene: protein-coding
Gene: MIR6863
Alternate names for this Gene: hsa-mir-6863
Gene Summary: microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop.
Gene is located in Chromosome: 16
Location in Chromosome : 16q13
Description of this Gene: microRNA 6863
Type of Gene: ncRNA
rs202114767 in
SLC12A3;MIR6863 gene and
Gitelman Syndrome
PMID 8528245 1996 Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter.
PMID 21415153 2011 Spectrum of mutations in Gitelman syndrome.
PMID 22214629 2012 Eplerenone improved hypokalemia in a patient with Gitelman's syndrome.
PMID 21343949 2011 Clinical utility gene card for: Gitelman syndrome.
PMID 18391953 2008 Rare independent mutations in renal salt handling genes contribute to blood pressure variation.
PMID 12039972 2002 Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman's syndrome.