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Article

PCSK1 Mutations and Human Endocrinopathies: From Obesity to Gastrointestinal Disorders

17 May 2016

Abstract excerpt

Prohormone convertase 1/3, encoded by the PCSK1 gene, is a serine endoprotease that 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 some or all of the following: obesity, malabsorptive diarrhea, hypogonadotropic hypogonadism, altered...

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PMID: 27187081
DOI: 10.1210/er.2015-1117

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