Renal tubular acidosis, distal, 4, with hemolytic anemia: genes and variants
Renal tubular acidosis, distal, 4, with hemolytic anemia is linked to 1 analyzed protein (SLC4A1). 1 DNA variants are known to cause it; 14 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, distal, 4, with hemolytic anemia
SLC4A1: Band 3 anion transport protein
In red blood cells it exchanges chloride and bicarbonate to support carbon-dioxide transport, while in renal intercalated cells it is required for acid-base regulation. Pathogenic variants can cause hereditary spherocytosis or distal renal tubular acidosis depending on the affected function.
1 disease-causing and 14 uncertain variants in SLC4A1 are linked to Renal tubular acidosis, distal, 4, with hemolytic anemia.
Known disease-causing variants in Renal tubular acidosis, distal, 4, with hemolytic anemia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SLC4A1 R602P | 602 | Involved in anion transport | Disease-causing |
Same protein, different disease
- Hereditary spherocytosis is also caused by SLC4A1 variants; they fall mostly in different places as the Renal tubular acidosis, distal, 4, with hemolytic anemia variants (13 disease-causing).
- Autosomal dominant distal renal tubular acidosis is also caused by SLC4A1 variants; they fall mostly in different places as the Renal tubular acidosis, distal, 4, with hemolytic anemia variants (11 disease-causing).
- Cryohydrocytosis is also caused by SLC4A1 variants; they fall mostly in different places as the Renal tubular acidosis, distal, 4, with hemolytic anemia variants (9 disease-causing).
Diseases related to Renal tubular acidosis, distal, 4, with hemolytic anemia
- Hereditary spherocytosis, also linked to SLC4A1
- Renal tubulopathies, also linked to SLC4A1
- Autosomal dominant distal renal tubular acidosis, also linked to SLC4A1
- Cryohydrocytosis, also linked to SLC4A1
- Southeast Asian ovalocytosis, also linked to SLC4A1
- Hemolytic anemia, also linked to SLC4A1
- BLOOD GROUP, WALDNER, also linked to SLC4A1
- BLOOD GROUP--SWANN SYSTEM, also linked to SLC4A1
Frequently asked questions
Which genes are linked to Renal tubular acidosis, distal, 4, with hemolytic anemia?
In CATVariant, Renal tubular acidosis, distal, 4, with hemolytic anemia is linked to 1 analyzed protein: SLC4A1 (Band 3 anion transport protein).
How many genetic variants are linked to Renal tubular acidosis, distal, 4, with hemolytic anemia?
29 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 14 are of uncertain significance or have conflicting reports.
Which uncertain variants in Renal tubular acidosis, distal, 4, with hemolytic anemia 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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