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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Gen Transmision Obesidad Leptina Recesiva Muy severa, inicio temprano Receptor de leptina Recesiva Muy severa, inicio temprano POMC Recesiva Muy severa, inicio temprano PC-1 Recesiva Severa, inicio temprano NTRK2 Dominante Muy severa, inicio temprano SIM1 Dominante Muy severa, inicio temprano MC4R Dominante Severa, inicio variable Fuente: Greenspan's basic & clinical endocrinology.
Gene Locus SNP Alelo Genotipo de Risco FAIM2 12q13 rs7138803 A GA Moderado MTCH2 11p11 rs10838738 G AG Moderado GNPDA2 4p13 rs10938397 G AA Baixo TMEM18 2p25 rs6548238 C CC Elevado SH2B1 16p11 rs7498665 G AG Moderado NEGR1 1p31 rs2815752 A AA Elevado FTO 16q12 rs9939609 A TT Baixo MC4R 18q21 rs17782313 C TC Moderado BDNF 11p14 rs925946 T GT Moderado Tabela 3--Perfil molecular de paciente com baixo peso, Passos (MG), 2015.
Key words: American mink, synonymous, mutation/SNP, melanocortin-4, receptor, MC4R polymorphism
Replication of genetic effects of MC4R polymorphisms on body mass index in a Korean population.
Melanocortin-4 receptors in the paraventricular nucleus of the hypothalamus are responsible for the anorexigenic response (loss of appetite) to increasing leptin levels; however, other pathways have also been implicated since MC4R knockout mouse models showed only moderate obesity (Robinson et al.
36) Mutations in this gene are linked with extreme obesity in humans, and MC4R knockout mice develop obesity.
Male non-obese MC4R knockout mice are less physically active than wild-type controls [50].
We analysed MC4R and MC3R for sequence variants that may contribute to the development of obesity in pupils from South Africa.
Han estudiado los genes e identificado aquellos caracteristicos de este mal como el SH2B1, que es importante en la secrecion de leptina, la cual actua sobre los receptores del hipotalamo inhibiendo el apetito, mientras que otros investigadores han detallado otros genes como el OB que actua sobre los receptores del hipotalamo; el MC4R, que regula la ingesta; y el FTO que puede producir sobrepeso.
Essa classe de receptores tem seis isoformas que sao: MC1R, MC2R, MC3R, MC4R, MC5R e o MC6R, porem somente o MC2R e expresso na glandula adrenal (FLUCK; MILLER, 2008).
The panel is also suggesting that parents be informed about the possibility of MC4R genetic testing if the child has gained weight from early infancy and is over the 97th percentile for weight at 3 years of age.
The connection between binge eating disorder (BED) and mutations of the MC4R gene was made by a team of Swiss, German, and New York researchers.