LP95531-7

PCSK9 gene

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Descriptions

PCSK9 encodes proprotein convertase subtilisin/kexin type 9, an enzyme which binds to several different LDL, VLDL and apolipoprotein receptors and promotes their degradation. Mutations in this gene have been associated with a rare form of autosomal dominant familial hypercholesterolemia (HCHOLA3). Mutations in PCSK9 result in increased enzyme activity, which leads to increased receptor degradation and decreased availability of receptors to bind and transport lipids into the cell. The end result is an increase in circulating lipid levels. [UniProt: Q8NBP7] Source: Regenstrief LOINC, UniProt: Q8NBP7

The PCSK9 gene (proprotein convertase subtilisin/kexin type 9) [HGNC Gene ID:20001] is located on chromosome 1p32.3. 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] [NCBI Gene ID:255738] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Basic Part Properties

Part Name

PCSK9 gene

Part Display Name

PCSK9 gene

Part Type

Component (Describes the core component or analyte measured)

Created On

2009-07-28

Construct for LOINC Short Name

PCSK9 gene

Related Codes

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