Melanocortin-4 receptor

Melanocortin 4 receptor
2IQP.
Available structures
PDB Ortholog search: RCSB
Identifiers
MC4R Gene
RNA expression pattern

Melanocortin receptor 4 is a protein that in humans is encoded by the MC4R gene.[1][2][3] It encodes the MC4 protein, a G-protein coupled receptor that binds α-melanocyte stimulating hormone (α-MSH). In murine models MC4 receptors have been found to be involved in feeding behaviour, the regulation of metabolism, sexual behaviour, and male erectile function [4][5][6]

In 1998, it was reported that MC4R mutations were associated with inherited human obesity. They were found in heterozygotes, suggesting an autosomal dominant inheritance pattern. However, based on other research and observations, these mutations seem to have an incomplete penetrance and some degree of codominance. It has a prevalence of 1-2.5% in people with BMIs of greater than 30, making it the most commonly known genetic defect predisposing people to obesity.[7]


Interactions

Melanocortin 4 receptor has been shown to interact with Proopiomelanocortin.[8][9]

Clinical significance

In 2009, two very large genome wide association studies of body mass index (BMI), confirmed the association of variants about 150 kilobases downstream of the MC4R gene with insulin resistance, obesity and other anthropometric traits.[10][11][12][13]

See also

References

External links

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.



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