MC4R
Description
The melanocortin 4 receptor (MC4R) gene plays a crucial role in regulating appetite and energy balance. Located on chromosome 18, MC4R encodes a protein that acts as a receptor for melanocortin peptides, including alpha-melanocyte-stimulating hormone (α-MSH). These peptides bind to MC4R, triggering a cascade of events that ultimately suppress appetite and promote energy expenditure. Genetic variations in MC4R can disrupt this signaling pathway, leading to alterations in appetite and body weight.
Associated Diseases
Did you know?
Mutations in the MC4R gene are the most common cause of monogenic obesity, accounting for approximately 5% of severe obesity cases.
