Genetic and functional characterization of PCSK1

Methods Mol Biol. 2011:768:247-53. doi: 10.1007/978-1-61779-204-5_13.

Abstract

PC1/3 is a neuroendocrine-specific member of the mammalian subtilisin-like proprotein convertase family. This seven-member family is involved in the endoproteolytic cleavage of a large number of precursor proteins including prohormones, proneuropeptides, zymogens, and proreceptors. PC1/3 is synthesized as a zymogen, proPC1/3, and its propeptide is rapidly and autocatalytically cleaved in the endoplasmic reticulum. The mature protein is sorted and stored in dense-core secretory vesicles, together with its substrates. Compound-inactivating mutations in the PCSK1 gene, which encodes PC1/3, cause monogenic obesity. Furthermore, the contribution of two common nonsynonymous variants in PCSK1 to polygenic obesity risk has recently been established. Additional rare variants have been identified in non-consanguineous extremely obese Europeans but functional characterization has not yet been described. Sequencing efforts of larger cohorts of obese patients might reveal more variants conferring risk of obesity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Genetic Predisposition to Disease
  • Humans
  • Mutation*
  • Obesity / genetics
  • Obesity / metabolism
  • Proprotein Convertase 1 / genetics
  • Proprotein Convertase 1 / metabolism
  • Protein Precursors / metabolism*
  • Sequence Analysis, DNA / methods*
  • White People

Substances

  • Protein Precursors
  • Proprotein Convertase 1