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PCSK1 Mutations and Human Endocrinopathies: From Obesity to Gastrointestinal Disorders

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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 exhib... ...