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LEP gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

LEP gene

The LEP gene provides instructions for making the hormone leptin, which plays a critical role in regulating body weight and signaling satiety to the brain.

Normal Function

The LEP gene provides instructions for making a hormone called leptin, which is involved in the regulation of body weight. Normally, the body's fat cells release leptin in proportion to their size. As fat accumulates in cells, more leptin is produced. This rise in leptin indicates that fat stores are increasing.

Leptin attaches (binds) to and activates a protein called the leptin receptor, fitting into the receptor like a key into a lock. The leptin receptor protein is found on the surface of cells in many organs and tissues of the body, including a part of the brain called the hypothalamus. The hypothalamus controls hunger and thirst as well as other functions such as sleep, moods, and body temperature. It also regulates the release of many hormones that have functions throughout the body. In the hypothalamus, the binding of leptin to its receptor triggers a series of chemical signals that affect hunger and help produce a feeling of fullness (satiety).

Health Conditions Related to Genetic Changes

Congenital leptin deficiency

At least seven LEP gene mutations that cause congenital leptin deficiency have been identified. This disorder is associated with excessive hunger, massive weight gain, and reduced production of hormones that direct sexual development (hypogonadotropic hypogonadism). The LEP gene mutations that cause congenital leptin deficiency lead to an absence of leptin. As a result, the signaling that triggers feelings of satiety does not occur, leading to the excessive hunger and weight gain associated with this disorder. Because hypogonadotropic hypogonadism occurs in congenital leptin deficiency, researchers suggest that leptin signaling is also involved in regulating the hormones that control sexual development.

Other Names for This Gene

  • LEP_HUMAN
  • LEPD
  • leptin (murine obesity homolog)
  • leptin (obesity homolog, mouse)
  • OB
  • obese protein
  • obese, mouse, homolog of
  • obesity factor
  • OBS

Frequently Asked Questions

Parents may notice that a child has an insatiable appetite, rapid weight gain, and difficulty losing weight despite normal or even reduced food intake. The child may also exhibit delayed puberty or lack of sexual development, as leptin is involved in hormone regulation. If these signs appear, a pediatrician should consider a leptin deficiency work‑up, which includes measuring serum leptin levels and genetic testing for LEP mutations.
Because congenital leptin deficiency is inherited in an autosomal recessive pattern, each sibling has a 25% chance of being affected if both parents carry a mutation. Carrier testing can be offered to parents and siblings using targeted genetic testing. Knowing carrier status helps with family planning and early monitoring for potential metabolic issues.
Diagnosis starts with a clinical evaluation and measurement of fasting serum leptin. Very low or undetectable leptin levels in the context of obesity suggest a deficiency. Confirmation requires genetic sequencing of the LEP gene to identify pathogenic mutations. A referral to a metabolic or endocrinology specialist is recommended for interpretation and management.
The mainstay of treatment is recombinant human leptin therapy (metreleptin). This injectable medication restores leptin signaling, reduces hunger, improves metabolic parameters, and can lead to weight loss. Treatment is usually lifelong and requires regular monitoring of weight, appetite, and metabolic markers.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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