PCSK9

Aliases
  • FH3
  • HCHOLA3
  • LDLCQ1
  • NARC-1
  • NARC1
  • Neural apoptosis-regulated convertase 1
  • PC9
  • PCSK9
  • Proprotein convertase 9
  • Proprotein convertase subtilisin/kexin type 9
  • hypercholesterolemia, autosomal dominant 3
  • proprotein convertase subtilisin/kexin type 9
Description
From NCBI Gene: 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]
Attributes
QA State
Under Review
Type
Protein
HGNC Name
PCSK9
Certifications
  • None
QA State for Ovary
Under Review

 Non-Public Biomarker

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 Non-Public Biomarker

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access.

 Non-Public Biomarker

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access.

 Non-Public Biomarker

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access.

 Non-Public Biomarker

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access.