The pomc gene encodes a prohormone that is cleaved into multiple bioactive peptides including acth, α-msh, β-msh, and β-endorphin. In the brain and pituitary, these peptides function as signaling molec...[+]

The pomc gene encodes a prohormone that is cleaved into multiple bioactive peptides including acth, α-msh, β-msh, and β-endorphin. In the brain and pituitary, these peptides function as signaling molecules; acth stimulates glucocorticoid production from interrenal cells, while msh peptides influence melanophore dispersion for skin darkening. The opioid peptide β-endorphin is involved in pain modulation and stress response. This prohormone is localized to secretory vesicles within neurons of the hypothalamus and melanotrope cells of the pituitary pars intermedia. [-]

          OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR; OBAIRH

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD