| GENE NAME | PCSK9 |
| CHROMOSOME | 1 |
| ENSEMBL ID | ENSG00000169174 |
| ENTREZ ID | 255738 |
| UNIPROT ACCESSION NUMBER | Q8NBP7 |
| GO MOLECULAR FUNCTION | very-low-density lipoprotein particle binding; apolipoprotein receptor binding; protein binding; low-density lipoprotein particle receptor binding; apolipoprotein binding; serine-type endopeptidase activity; low-density lipoprotein particle binding; very-low-density lipoprotein particle receptor binding; RNA binding; protein self-association; signaling receptor inhibitor activity; sodium channel inhibitor activity |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | R-HSA-392499; R-HSA-381426; R-HSA-597592; R-HSA-8964043; R-HSA-8964038; R-HSA-8866427; R-HSA-174824; R-HSA-382551; R-HSA-8957275; hsa04979 |
| 8 combinations linked to PCSK9 | OLI819; OLI818; OLI463; OLI1215; OLI821; OLI820; OLI500; OLI817 |
| 5 variants linked to PCSK9 | PCSK9:c.1327G>A, p.Ala443Thr; PCSK9:c.137G>T, p.Arg46Leu; PCSK9:c.94G>A, p.Glu32Lys; PCSK9:c.10G>A, p.Val4Ile; PCSK9:c.2004C>A, p.Ser668Arg |
| 2 diseases linked to PCSK9 | Hypobetalipoproteinemia; NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia |