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LEP

LEP

Reviewed December 2013

What is the official name of the LEP gene?

The official name of this gene is “leptin.”

LEP is the gene's official symbol. The LEP gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the LEP gene?

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).

How are changes in the LEP gene related to health conditions?

congenital leptin deficiency - caused by mutations in the LEP gene

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. However, the specifics of this involvement and how it may be altered in congenital leptin deficiency are unknown.

Where is the LEP gene located?

Cytogenetic Location: 7q31.3

Molecular Location on chromosome 7: base pairs 128,241,188 to 128,257,628

The LEP gene is located on the long (q) arm of chromosome 7 at position 31.3.

The LEP gene is located on the long (q) arm of chromosome 7 at position 31.3.

More precisely, the LEP gene is located from base pair 128,241,188 to base pair 128,257,628 on chromosome 7.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about LEP?

You and your healthcare professional may find the following resources about LEP helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the LEP gene or gene products?

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

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding LEP?

congenital ; deficiency ; fat cells ; gene ; hormone ; hypogonadism ; hypogonadotropic ; hypothalamus ; protein ; receptor ; satiety

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (12 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: December 2013
Published: October 20, 2014