Gene information for PCSK9 (Homo sapiens)
(Information is obtained from NCBI Gene database)
| Entrez gene ID | 255738 |
| Official gene symbol | PCSK9 |
| Full name | proprotein convertase subtilisin/kexin type 9 |
| Aliases | ,FH3,HCHOLA3,LDLCQ1,NARC-1,NARC1, |
| Gene summary | This gene encodes a proprotein convertase belonging to the proteinase K subfamily of the secretory subtilase family. The encoded protein is synthesized as a soluble zymogen that undergoes autocatalytic intramolecular processing in the endoplasmic reticulum. The protein may function as a proprotein convertase. This protein plays a role in cholesterol homeostasis and may have a role in the differentiation of cortical neurons. Mutations in this gene have been associated with a third form of autosomal dominant familial hypercholesterolemia (HCHOLA3). [provided by RefSeq] |
| Location | Chromosome: 1 Locus: |
| Gene position | 55505149 - 55530526 Map Viewer |
| OMIM ID | 607786 |
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