Prohormone convertase 1/3 deficiency

Definition:

Proprotein convertase 1/3 (PC1/3) deficiency is a rare autosomal recessive disorder caused by mutations in the PCSK1 gene. It is associated with early-onset obesity, severe malabsorptive diarrhea, certain endocrine abnormalities, and dysregulation of glucose homeostasis. PC1/3 is an endoprotease that processes many prohormones expressed in endocrine and neuronal cells.

References:

[1]. I Sadaf Farooqi, et al. Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3. J Clin Endocrinol Metab. 2007 Sep;92(9):3369-73. [Content Brief]

[2]. Martín G Martín, et al. Congenital proprotein convertase 1/3 deficiency causes malabsorptive diarrhea and other endocrinopathies in a pediatric cohort. Gastroenterology. 2013 Jul;145(1):138-148. [Content Brief]

[3]. R S Jackson, et al. Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. Nat Genet. 1997 Jul;16(3):303-6. [Content Brief]

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