Title: PCSK1 mutations and human endocrinopathies: from obesity to gastrointestinal disorders
Authors: Stijnen, Pieter
Ramos Molina, Bruno
O'Rahilly, Stephen
Creemers, John # ×
Issue Date: Aug-2016
Publisher: Endocrine Society
Series Title: Endocrine Reviews vol:37 issue:4
Abstract: Prohormone convertase 1/3 (PC1/3), encoded by the PCSK1 gene, is a serine endoprotease which is involved in the processing of a variety of proneuropeptides and prohormones. Humans who are homozygous or compound heterozygous for loss-of-function mutations in PCSK1 exhibit a variable and pleiotropic syndrome consisting of someor all of the following: obesity, malabsorptive diarrhea, hypogonadotropic hypogonadism, altered thyroid and adrenal function and impaired regulation of plasma glucose levels in association with elevated circulating proinsulin-to-insulin ratio. Recently, morecommonvariants in the PCSK1 gene have been found to be associated with alterations in body mass index, increased circulating proinsulin levels and defects in glucose homeostasis. This review provides an overview of the endocrinopathies and other disorders observed in PC1/3-deficient patients, discusses the possible biochemical basis for these manifestations of the disease and proposes a model whereby certain missense mutations in PCSK1 may result in proteins with a dominant negative action.
ISSN: 0163-769X
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Biochemical Neuroendocrinology
× corresponding author
# (joint) last author

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