present in Gene: MC4R
present in Chromosome: 18
Position on Chromosome: 60371403
Alleles of this Variant: A/C
rs121913564 in
MC4R gene and
Obesity
PMID 26179253 2015 Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population.
PMID 12588803 2003 Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms.
PMID 12646665 2003 Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.
PMID 20631012 2010 We have studied the intracellular localization of four obesity-linked MC4R variants, P78L, R165W, I316S, and I317T, in immortalized neurons.
PMID 22463805 2012 High prevalence of leptin and melanocortin-4 receptor gene mutations in children with severe obesity from Pakistani consanguineous families.