The information on this page is for informational purposes only and does not constitute medical advice. Consult your genetic counselor or specialist physician for treatment decisions.

PCSK9

—Proprotein Convertase Subtilisin/Kexin Type 9

Chromosome: 1

Location: 1:55039445-55064852

OMIM: 607786

Ensembl: ENSG00000169174

Official·OMIM:607786 Official·ENSG00000169174

Regulates LDL receptor degradation. Gain-of-function mutations cause familial hypercholesterolemia.

Treatment Roadmap — PCSK9

Preclinical

Phase 1

3 trial

Phase 2

1 trial

Phase 3

3 trial

Approved

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

Associated Diseases

Familial Hypercholesterolemia

Autosomal DominantPrevalence: ~35Mmetabolic

Official·OMIM:143890 Official·ORPHA391665

Summary

Clinical Trial

Approved Therapy

Registered Variant