MC3R
Description
The MC3R (melanocortin 3 receptor) is a protein-coding gene located on chromosome 20.
The Melanocortin 3 receptor (MC3R) is a protein encoded by the MC3R gene. It is a G-protein coupled receptor (GPCR) for melanocyte-stimulating hormone (MSH) and adrenocorticotropic hormone (ACTH), expressed in the brain. The gene is located in the same region as the locus for benign neonatal epilepsy. Mice lacking this gene exhibit increased fat mass, reduced lean mass, and decreased food intake, suggesting a role in energy homeostasis regulation. Mutations in MC3R are linked to reduced childhood growth rate and delayed puberty onset. Research by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) found that two specific polymorphisms in the MC3R gene may be associated with pediatric obesity and greater body mass due to increased energy intake. Children homozygous for C17A + G241A consumed approximately 38% more than those without these polymorphisms. The study concluded that these genetic variants did not affect energy expenditure. Known ligands for MC3R include Ac-Val-Gln-(pI)DPhe-DTic-NH2, a highly selective agonist (100x over MC4), and Ac-Val-Gln-DBip-DTic-NH2, with 140x selectivity over MC4.
MC3R is also known as BMIQ9, MC3, MC3-R, OB20, OQTL.
