This gene encodes a preproprotein that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. There are eight potential cleavage sites within the preproprotein and, depending on tissue type and the available convertases, processing may yield as many as ten biologically active peptides involved in diverse cellular functions. The encoded protein is synthesized mainly in corticotroph cells of the anterior pituitary where four cleavage sites are used; adrenocorticotrophin, essential for normal steroidogenesis and the maintenance of normal adrenal weight, and lipotropin beta are the major end products. In other tissues, including the hypothalamus, placenta, and epithelium, all cleavage sites may be used, giving rise to peptides with roles in pain and energy homeostasis, melanocyte stimulation, and immune modulation. The
Function:
Disease:Defects in POMC are the cause of pro-opiomelanocortinin deficiency [MIM:609734]. Affected individuals present early-onset obesity, adrenal insufficiency and red hair.,Disease:Defects in POMC may be associated with susceptibility to obesity [MIM:601665].,Function:ACTH stimulates the adrenal glands to release cortisol.,Function:Beta-endorphin and Met-enkephalin are endogenous opiates.,Function:MSH (melanocyte-stimulating hormone) increases the pigmentation of skin by increasing melanin production in melanocytes.,online information:Melanocyte-stimulating hormone entry,PTM:O-glycosylated; reducing sugar is probably N-acetylgalactosamine.,PTM:Specific enzymatic cleavages at paired basic residues yield the different active peptides.,similarity:Belongs to the POMC family.,tissue specificity:ACTH and MSH are produced by the pituitary gland.,