Novel Homozygous Inactivating Mutation in the <i>PCSK1</i> Gene in an Infant with Congenital Malabsorptive Diarrhea

Novel Homozygous Inactivating Mutation in the <i>PCSK1</i> Gene in an Infant with Congenital Malabsorptive Diarrhea

Proprotein convertase 1/3 (PC1/3), encoded by the <i>PCSK1</i> gene, is expressed in neuronal and (entero)endocrine cell types, where it cleaves and hence activates a number of protein precursors that play a key role in energy homeostasis. Loss-of-function mutations in <i>PCSK1<...

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Bibliographic Details
Main Authors: Laetitia Aerts, Nathalie A. Terry, Nina N. Sainath, Clarivet Torres, Martín G. Martín, Bruno Ramos-Molina, John W. Creemers
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:Genes
Subjects:
proprotein convertase 1/3
<i>PCSK1</i>
congenital malabsorptive diarrhea
endocrinopathy
enteroendocrine cells
Online Access:https://www.mdpi.com/2073-4425/12/5/710

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