QuickView for PCSK9 (gene)

Gene Symbol:

PCSK9 Homo sapiens

Full name:

proprotein convertase subtilisin/kexin type 9

Synonyms:

FH3, HCHOLA3, LDLCQ1, NARC-1, NARC1, PC9, proprotein convertase subtilisin/kexin type 9, convertase subtilisin/kexin type 9 preproprotein, neural apoptosis regulated convertase 1, subtilisin/kexin-like protease PC9

Genomic Location:

Chr 1: 55277808-55303111

Description:

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 secr...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Danio rerio ,  Gallus gallus ,  Pan troglodytes

External Links:

Entrez Gene

Cytogenetic Map:

1p32.3

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