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FLASH GENE
Symbol MC4R contributors: mct - updated : 06-10-2018
HGNC name melanocortin 4 receptor
HGNC id 6932
ASSOCIATED DISORDERS
corresponding disease(s) OBS3
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       loss of function
results in hyperphagia, obesity and increased growth
Susceptibility
  • to obesity (major contributor)(Hotta 2009)
  • to infantile spasms
  • to Polycystic ovary syndrome (PCOS)
  • Variant & Polymorphism SNP , other
  • rs17782313 associate with fat mass, weight and height, suggesting an overall influence on adult size as well as an increased risk of obesity (Thorleifsson, Hotta 2009)
  • genetic variants in the MC4R promoter are associated with the development of infantile spasms, and rs11872992 polymorphism influences ACTH treatment responses in patients with infantile spasms (Liu 2007)
  • interaction between common variants of FTO and MC4R is associated with risk of PCOS
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    obesity  
    therapy including partial agonists of the MC4R could normalize the appetite and inhibit compulsive eating
    ANIMAL & CELL MODELS
  • hyperphagia following germline loss of MC4R in male mice promotes growth while suppressing the growth hormone-insulin-like growth factor-1 (GH-IGF-1) axis