MC4R


Also found in: Acronyms.

MC4R

A gene on chromosome 18q22 that encodes a receptor for alpha, beta and gamma melanocyte stimulating hormone (MSH), the activity of which is mediated by G protein-activated adenylate cyclase and expressed in the brain, placenta and gut.

Molecular pathology
Defects in MC4R are linked to obesity.
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But some people carry a rare mutation in MC4R that prevents the gene from working.
Our findings may pave the way for a new generation of weight loss therapies that activate MC4R preferentially via the beta-arrestin pathway," said Dr Luca Lotta, Senior Clinical Investigator
The amplification was performed in a 25 [micro]L reaction mixture containing 1 [micro]L of DNA, 0.7 [micro]L of each outer FTO primer, 1 [micro]L of each inner FTO primer, 3 [micro]L of each inner MC4R primer, 1 [micro]L of each inner MC4R, 0.5 [micro]L of dNTPs, 2.5 [micro]L of buffer (10X), 1 [micro]L MgCl2 (1Mm), and 0.2 [micro]L Taq polymerase.
Despite the reduction of ANS activity in SE animals, the MC4R content in the PVN as well as in the number of POMC positive cells were unaltered in our model, suggesting that the BAT ANS dysfunction was not related to melanocortin system programming.
Several studies have examined the effect of obesity-risk genes, such as FTO, MC4R, and the transmembrane protein 18 (TMEM18) on GWG [19-22].
Of note, some of such associations are reported for the first time, except for rs1799883 (FABP2) [34], rs660339 (UCP2) and rs659366 (UCP2) [35], rs1052700 (PLIN1) [36], rs17782313 (MC4R) [37], rs7799039 (LEP) [38], rs2943641 (IRS1) [39], rs9939609 (FTO) [40], and rs324420 (FAAH) [41].
Association of variation in the mc4r gene with meat quality traits in a commercial pig population.
Setmelanotide is a potent, first-in-class MC4R agonist in development for the treatment of obesity caused by genetic deficiencies in the MC4 pathway, a key biological pathway in humans that regulates weight by increasing energy expenditure and reducing appetite.
Otro ejemplo documentado es el de mas de una docena de polimorfismos de nucleotido simple que afectan el receptor 4 de melanocortina (MC4R), los cuales estan asociados a diversos grados de obesidad (27).
Este tambem apresentou baixo risco para o polimorfismo rs17782313 do gene MC4R, responsavel por codificar uma proteina membro da familia de receptores de melanocortina (associada a funcoes fisiologicas como pigmentacao, homeostase energica, imunomodulacao, esteroidogenese e controle de temperatura).
In the brain, the most abundant MCR subtypes are MC3R and MC4R [35,36].