preproPOMC
PreproPOMC, or preproopiomelanocortin, is the initial translation product of the POMC gene and serves as the secretory pathway–targeted precursor to a family of peptide hormones. It contains a signal peptide that directs it into the secretory pathway and a prohormone region that is subsequently processed into multiple active peptides.
In humans, the POMC gene is located on chromosome 2 and encodes a single polypeptide of about
Processing and products: Endoproteolytic cleavage by prohormone convertases, notably PC1/3 and PC2, followed by carboxypeptidases, generates
Function: The POMC-derived peptides act in diverse physiological pathways. ACTH stimulates cortisol production by the adrenal
Clinical relevance: Mutations in POMC or defects in its processing enzymes can cause POMC deficiency syndromes