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

• Obesity
• Prader-Willi syndrome
• Hypothalamic obesity
• Leptin deficiency
• Leptin resistance

Did you know?

Mutations in the MC4R gene are the most common cause of monogenic obesity, accounting for approximately 5% of severe obesity cases.