PGK1
Chr XXLRphosphoglycerate kinase 1
Also known as: HEL-S-68p, MIG10, PGKA
Phosphoglycerate kinase 1 catalyzes the conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate in the glycolytic pathway and acts as a polymerase alpha cofactor protein. Mutations cause phosphoglycerate kinase 1 deficiency, which presents with hemolytic anemia and neurological impairment. The condition follows X-linked recessive inheritance and the gene is highly constrained against loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PGK1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools