LP208505-0
SLC12A3 gene
Active
Description
The SLC12A3 gene (solute carrier family 12 member 3) [HGNC Gene ID:10912] is located on chromosome 16q13. 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. [provided by RefSeq, Jul 2008] [NCBI Gene ID:6559] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- SLC12A3 gene
- Part Display Name
- SLC12A3 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-03-21
- Construct for LOINC Short Name
- SLC12A3
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- CodeSystem lookup
- https:
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| it-IT | Italian (Italy) | SLC12A3, gene Synonyms: Gene SLC12A3 |
| zh-CN | Chinese (China) | SLC12A3 基因 Synonyms: 溶质载体家族 12 成员 3; |
| es-ES | Spanish (Spain) | Gen SLC12A3 |
| nl-NL | Dutch (Netherlands) | SLC12A3-gen Synonyms: SLC12A3 gen |
| el-GR | Greek (Greece) | Γονίδιο SLC12A3 Synonyms: Γονίδιο SLC12A3 |
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