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proprotein convertase subtilisin/kexin type 9

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]

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Data Correlations | 547 studies

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Individual Studies
  • OMIM - Hyperlipidemia

    score: 100100 | Homo sapiens Homo sapiens | Mutations/Phenotypic   Mutations/Phenotypic

    This study contains curated human phenotype data extracted from OMIM. Additional computational processing and curation of the phenotype data was performed to further organize and group data from related phenotypes into unifying disease categories.

    Source: NextBio Library/Mutation and Phenotypic data

  • Single or combinations of deletions of Irs1, Irs2, and Foxo1 in the liver of fasted or fed mice

    score: 100100 | Mus musculus Mus musculus | RNA Expression   RNA Expression

    The effect of liver specific deletion of the insulin receptor substrate-1 (Irs1) and/or Irs2 upon gene expression in the fasted and fed liver of mice, and the effect of liver specific Foxo1 deletion in the Irs1 and Irs2 knockout liver during fasting and feeding was investigated.

    Source: NextBio Library/Metabolic disorders and Obesity

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Thought leaders and organizations working on research involving PCSK9.

  • Sekar Kathiresan
  • Gilles Lambert
  • Helen H Hobbs
  • Heribert Schunkert
  • Michel Krempf
  • Nantes University Hospital
  • Merck
  • Ottawa Hospital Research Institute
  • Bristol-Myers Squibb
  • University of Texas Southwestern Medical Center
  • Rikshospitalet University Hospital
  • Lilly Research Laboratories
  • Heart Research Institute
  • hôpital Necker-Enfants malades

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