Leptin receptor

Leptin receptor (also known as LEPR) is a protein that in humans is encoded by the LEPR gene. The leptin receptor is a single transmembrane receptor, and it is a member of the cytokine receptor family. This receptor is found on the cell membrane of many types of tissues and organs, including the hypothalamus in the brain.

Function

The leptin receptor is involved in the regulation of body weight and metabolism through its interaction with leptin, a hormone produced by adipose tissue. When leptin binds to the leptin receptor, it activates a signaling pathway that results in the suppression of appetite and increased energy expenditure. This is a key mechanism by which the body maintains energy balance and prevents excessive weight gain.

Structure

The leptin receptor is a type I cytokine receptor, characterized by the presence of a cytokine receptor homology (CRH) domain in its extracellular region. The CRH domain is responsible for binding to leptin. The intracellular region of the leptin receptor contains a Box 1 motif and a Box 2 motif, which are necessary for the activation of Janus kinase (JAK) and the initiation of downstream signaling.

Clinical significance

Mutations in the LEPR gene can lead to leptin receptor deficiency, a rare genetic disorder characterized by severe early-onset obesity, hyperphagia, and endocrine abnormalities. This condition is part of a larger group of diseases known as monogenic obesity.

Research

Research on the leptin receptor has provided important insights into the regulation of body weight and energy balance. It has also led to the development of new therapeutic strategies for obesity and related metabolic disorders.

See also

• Leptin
• Obesity
• Metabolic syndrome
• Monogenic obesity