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PKLR

—Pyruvate Kinase L/R

Chromosome: 1

Location: 1:155289265-155301443

OMIM: 609712

Ensembl: ENSG00000143627

Official·OMIM:609712 Official·ENSG00000143627

Encodes erythrocyte pyruvate kinase. Mutations cause pyruvate kinase deficiency.

Treatment Roadmap — PKLR

Preclinical

Phase 1

1 trial

Phase 2

Phase 3

Approved

Clinical trials have approximately 10% success rate. This roadmap shows the current status, not guaranteed outcomes.

Associated Diseases

Pyruvate Kinase Deficiency

Autosomal RecessivePrevalence: 1/20000hematologic

Official·OMIM:266200 Official·ORPHA766

Summary

Clinical Trial

Approved Therapy

Registered Variant