Renal tubular acidosis: genes and variants
Renal tubular acidosis is linked to 1 analyzed protein (SLC12A3). 1 DNA variants are known to cause it; 1 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Renal tubular acidosis
SLC12A3: Solute carrier family 12 member 3
It reabsorbs sodium and chloride in the distal convoluted tubule and is a major determinant of renal salt and magnesium handling. Biallelic loss-of-function variants cause Gitelman syndrome with hypokalemic metabolic alkalosis, hypomagnesemia, and low urinary calcium.
1 disease-causing and 0 uncertain variants in SLC12A3 are linked to Renal tubular acidosis.
Weakly linked (only a few uncertain records): SLC4A1, ATP6V1B1 and HADHB.
Known disease-causing variants in Renal tubular acidosis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SLC12A3 P349L | 349 | Transmembrane | Disease-causing (★★) |
Same protein, different disease
- Familial hypokalemia-hypomagnesemia is also caused by SLC12A3 variants; they fall mostly in different places as the Renal tubular acidosis variants (115 disease-causing).
- Renal tubulopathies is also caused by SLC12A3 variants; they fall mostly in different places as the Renal tubular acidosis variants (14 disease-causing).
Diseases related to Renal tubular acidosis
- Familial hypokalemia-hypomagnesemia, also linked to SLC12A3
- Nephrotic syndrome, also linked to SLC12A3
- Renal tubulopathies, also linked to SLC12A3
- Myocardial infarction, also linked to SLC12A3
- Bartter syndrome, also linked to SLC12A3
- Chronic kidney disease, also linked to SLC12A3
Frequently asked questions
Which genes are linked to Renal tubular acidosis?
In CATVariant, Renal tubular acidosis is linked to 1 analyzed protein: SLC12A3 (Solute carrier family 12 member 3).
How many genetic variants are linked to Renal tubular acidosis?
6 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 1 are of uncertain significance or have conflicting reports.
Which uncertain variants in Renal tubular acidosis look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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