MC4R

Full Name: Melanocortin 4 Receptor

Genomic Location: Chromosome 18:60,371,062-60,372,775

Protein Size: 332 amino acids

Function:

Receptor specific to the heptapeptide core common to adrenocorticotropic hormone and alpha-, beta-, and gamma-MSH. Plays a central role in energy homeostasis and somatic growth. This receptor is mediated by G proteins that stimulate adenylate cyclase (cAMP). 

The protein encoded by this gene is a membrane-bound receptor and member of the melanocortin receptor family. The encoded protein interacts with adrenocorticotropic and MSH hormones and is mediated by G proteins. This is an intronless gene. Defects in this gene are a cause of autosomal dominant obesity.

Linked SNP(s):

  • rs17782313 is linked to MC4R, it is located approximately 200,000 bases upstream.
  • Population frequencies are approximately 77% for the reference allele (T) and 23% for the alternate allele (C).
  • Studies suggest the T allele is associated with more time spent exercising.
  • rs12970134 is linked to MC4R, it is located approximately 150,000 bases upstream.
  • Population frequencies are approximately 80% for the reference allele (G) and 20% for the alternate allele (A).
  • Studies suggest the A allele is associated with increased health risks that can be mitigated through healthy eating and physical exercise.
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