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pcsk9
PCSK9
PCSK9 promotes lysosomal degradation of LDL receptors, elevating LDL-C; GOF mutations → familial hypercholesterolemia; LOF mutations → low LDL-C and cardiovascular protection; PCSK9 inhibitors (evolocumab, alirocumab) reduce LDL-C 50-60% and major cardiovascular events.
Entry Metadata
| Field | Value |
|---|---|
| ID | pcsk9 |
| Name | PCSK9 |
| Status | draft |
| Last reviewed | 2026-06-07 |
| Atlas | 01-human |
| Scale | 03-molecular |
Cross-Atlas Connections
Sources
- Abifadel M, Varret M, Rabès JP, et al. Mutations in PCSK9 cause autosomal dominant hypercholesterolaemia. Nat Genet. 2003;34(2):154-156. · PubMed 12730697
- Sabatine MS, Giugliano RP, Keech AC, et al. Evolocumab and clinical outcomes in patients with cardiovascular disease. N Engl J Med. 2017;376(18):1713-1722. · PubMed 28304224