Pyruvate kinase hyperactivity: genes and variants
Pyruvate kinase hyperactivity is linked to 1 analyzed protein (PKLR). 2 DNA variants are known to cause it; 6 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 Pyruvate kinase hyperactivity
PKLR: Pyruvate kinase PKLR
It catalyzes the final ATP-generating step of glycolysis in red blood cells and liver. Biallelic loss-of-function variants cause pyruvate kinase deficiency, leading to chronic nonspherocytic hemolytic anemia because erythrocytes cannot maintain adequate ATP production.
2 disease-causing and 6 uncertain variants in PKLR are linked to Pyruvate kinase hyperactivity.
Known disease-causing variants in Pyruvate kinase hyperactivity
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PKLR N393S | 393 | Disease-causing (★★) | |
| PKLR R486W | 486 | Disease-causing (★★) |
Same protein, different disease
- Pyruvate kinase deficiency of red cells is also caused by PKLR variants; they fall mostly in different places as the Pyruvate kinase hyperactivity variants (23 disease-causing).
Diseases related to Pyruvate kinase hyperactivity
- Pyruvate kinase deficiency of red cells, also linked to PKLR
Frequently asked questions
Which genes are linked to Pyruvate kinase hyperactivity?
In CATVariant, Pyruvate kinase hyperactivity is linked to 1 analyzed protein: PKLR (Pyruvate kinase PKLR).
How many genetic variants are linked to Pyruvate kinase hyperactivity?
12 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 6 are of uncertain significance or have conflicting reports.
Which uncertain variants in Pyruvate kinase hyperactivity 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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