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Article

A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity.

PloS one - 1 Jan 2014

Wilschanski Michael, Abbasi Montaser, Blanco Elias, Lindberg Iris, Yourshaw Michael, Zangen David, Berger Itai, Shteyer Eyal, Pappo Orit, Bar-Oz Benjamin, Martín Martin G, Elpeleg Orly

Abstract excerpt

Four siblings presented with congenital diarrhea and various endocrinopathies. Exome sequencing and homozygosity mapping identified five regions, comprising 337 protein-coding genes that were shared by three affected siblings. Exome sequencing identified a novel homozygous N309K mutation in the proprotein convertase subtilisin/kexin type 1 (PCSK1) gene, encoding the neuroendocrine convertase 1 precursor (PC1/3)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25272002
DOI: 10.1371/journal.pone.0108878
PMCID: PMC4182778

Genes

PCSK1

Provenance

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A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity.PMID 25272002Read ↗

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