PCSK9, Official Symbol PCSK9provided by HGNC Official Full Name proprotein convertase subtilisin/kexin type 9provided by HGNC Primary source HGNC:HGNC:20001 See related Ensembl:ENSG00000169174 MIM:607786; AllianceGenome:HGNC:20001 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FH3; PC9; FHCL3; NARC1; LDLCQ1; NARC-1; HCHOLA3 Summary This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an autocatalytic processing event with its prosegment in the ER and is constitutively secreted as an inactive protease into the extracellular matrix and trans-Golgi network. It is expressed in liver, intestine and kidney tissues and escorts specific receptors for lysosomal degradation. It plays a role in cholesterol and fatty acid metabolism. Mutations in this gene have been associated with autosomal dominant familial hypercholesterolemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] Expression Biased expression in lung (RPKM 5.3), liver (RPKM 3.3) and 9 other tissues See more Orthologs mouse all