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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About MC4 Heterozygous Deficiency Obesity MC4 heterozygous deficiency, also known as heterozygous MC4R mutation carriers, in which one of the genes for the MC4R are not fully functional, results in a strong predisposition to early onset and severe obesity and is the most common genetic cause of obesity.
The gene expression results revealed significant associations between the relative MC4R, IGF1, and LEP expression levels and growth and carcass traits.
No sequence variants were identified on MC4R, while two common sequence variants (T6K and V81I) were identified in the MC3R coding region.
The investigators speculated that MC4R agonists now in development may prove to have a specific role in treating BED.
Thus, by carefully balancing positive and negative forces on the autonomic nervous system, the MC4R maintains equilibrium of appropriate blood pressure and insulin levels.
Genetic analysis of their blood revealed that 24 carried a mutated gene for MC4R.
This is the first human study to test the hypothesis that an MC4R agonist increases energy expenditure," said Monica Skarulis, MD, investigator at the NIH.
Personalized medicine approach to treat obesity caused by MC4R genetic deficiency -
Effects of ADCYP1R1, FABP3, FABP4, MC4R, MYL2 genotypes on growth traits in F2 population between Landrace and Jeju native black pig.
Genetically deleting or chemically blocking MC4R in the central nervous system showed increased levels of cholesterol, suggesting that MC4R was the central element of the "remote control.
Variants Nearest gene Full gene name rs7138803 BCDIN3D/FAIM2 BCDIN3 domain containing--Fas apoptotic inhibitory molecule 2 rs2844479 AIF1/NCR3 Allograft inflammatory factor 1/natural cytotoxicity triggering receptor 3 rs8050136, FTO Fat mass rs9939609, and obesity rs11642841 associated rs10938397 GNPDA2 Glucosamine-6 -phosphate deaminase 2 rs17782313, MC4R Melanocortin rs12970134 4 receptor rs310336, NEGR1 Neuronal growth rs2568958 regulator 1 rs7647305 SFRS10/ETV5/DGKG Transformer 2 --ets variant 5--diacylglycerol kinase, gamma 90kDa rs7498665 SH2B1 SH2B adaptor protein 1 rs6548238 TMEM18 Transmembrane protein 18 Variants OR T2D Study type (a) rs7138803 1.