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Article

Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency.

Molecular genetics and metabolism - 1 Jan 2000

Frank Graeme R, Fox Joyce, Candela Ninfa, Jovanovic Zorica, Bochukova Elena, Levine Jeremiah, Papenhausen Peter R, O'Rahilly Stephen, Farooqi I Sadaf

Abstract excerpt

Non-synonymous mutations affecting both alleles of PCSK1 (proprotein convertase 1/3) are associated with obesity and impaired prohormone processing. We report a proband who was compound heterozygous for a maternally inherited frameshift mutation and a paternally inherited 474kb deletion that encompasses PCSK1, representing a novel genetic mechanism underlying this phenotype. Although pro-vasopressin is not a...

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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: 23800642
DOI: 10.1016/j.ymgme.2013.04.005
PMCID: PMC3759845

Genes

PCSK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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