PKLR

Chr 1q22

pyruvate kinase L/R

MANE:: ENST00000342741.6

OMIM: 609712 ↗NCBI: 5313 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PKLR · P30613

v62025-08-01

Predicted Aligned Error matrix for PKLR — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.7/ 100

Very high

574 residues

Confidence breakdown

Very high(≥ 90)85%
Confident(70–90)5%
Low(50–70)2%
Very low(< 50)8%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Cytopenias and congenital anaemias
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops
BIALLELIC, autosomal or pseudoautosomal
Rare anaemia
BIALLELIC, autosomal or pseudoautosomal
Hereditary Erythrocytosis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

pyruvate kinase deficiency of red cells
0.85
Hemolytic anemia due to red cell pyruvate kinase deficiency
0.69
pyruvate kinase hyperactivity
0.65
congenital anemia
0.43
sickle cell disease
0.39
severe acute respiratory syndrome
0.37
familial hemolytic anemia
0.37
Alpha-thalassemia
0.35
Beta-thalassemia
0.34
beta thalassemia
0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Pyruvate kinase PKLR

Pyruvate kinase that catalyzes the conversion of phosphoenolpyruvate to pyruvate with the synthesis of ATP, and which plays a key role in glycolysis (PubMed:11960989). Also produces the side product 2-phospholactate which can inhibit fructose-2,6-bisphosphate production (PubMed:27294321). 2-phospholactate can be dephosphorylated by PGP which prevents the inhibition of fructose-2,6-bisphosphate production and allows glycolysis to occur (PubMed:27294321)