WebThe POMC gene provides instructions for making a protein called proopiomelanocortin (POMC), which is cut (cleaved) into smaller pieces called peptides that have different functions in the body. The peptides attach (bind) to one of several proteins in different regions of the body, and this binding triggers signaling pathways that control many … WebMay 5, 2024 · Genetic defects in POMC are linked to metabolic disorders in humans and animals. In the present study, we undertook an evolutionary genetic approach complemented with biochemistry to investigate the functional consequences of genetic polymorphisms in the POMC system of free-living outbred barn owl species (family …
Proopiomelanocortin deficiency: MedlinePlus Genetics
WebFeb 19, 2024 · Early-onset Obesity, Adrenal Insufficiency, and Red Hair. In 2 unrelated children with early-onset obesity, adrenal insufficiency, and red hair (OBAIRH; 609734), Krude et al. (1998) identified biallelic loss-of-function mutations in the POMC gene. One patient was compound heterozygous for 2 mutations in exon 3 (176830.0001 and 176830.0002) … WebSep 1, 2007 · The precursor protein, proopiomelanocortin (POMC), produces many biologically active peptides via a series of enzymatic steps in a tissue-specific manner, … high rise platform
Epigenetic Alterations of the Promoter Region of the POMC Gene …
WebIn addition to POMC the family includes the proenkephalin (PENK), prodynorphin (PDYN), and nociceptin/proorphanin (PNOC) precursors. The opioid core sequence in POMC is incorporated by the β-endorphin that occupies the C-terminal region but this propeptide also exhibits at least two "alien" melanocortin core sequences (HFRW). WebJun 9, 2024 · Proopiomelanocortin (POMC) deficiency is an extremely rare inherited autosomal recessive disorder characterized by severe obesity, adrenal insufficiency, skin … WebIn addition to POMC the family includes the proenkephalin (PENK), prodynorphin (PDYN), and nociceptin/proorphanin (PNOC) precursors. The opioid core sequence in POMC is … high rise poster