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Genetics Home Reference: your guide to understanding genetic conditions
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LEPR

Reviewed October 2013

What is the official name of the LEPR gene?

The official name of this gene is “leptin receptor.”

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

What is the normal function of the LEPR gene?

The LEPR gene provides instructions for making a protein called the leptin receptor, which is involved in the regulation of body weight. 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.

The leptin receptor is turned on (activated) by a hormone called leptin that attaches (binds) to the receptor, fitting into it like a key into a lock. Normally, the body's fat cells release leptin in proportion to their size. As fat cells become larger, they produce more leptin. This rise in leptin indicates that fat stores are increasing. 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).

Does the LEPR gene share characteristics with other genes?

The LEPR gene belongs to a family of genes called immunoglobulin superfamily, immunoglobulin-like domain containing (immunoglobulin superfamily, immunoglobulin-like domain containing).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

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

leptin receptor deficiency - associated with the LEPR gene

At least five LEPR gene mutations that cause leptin receptor 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). Some of the mutations result in less receptor protein getting to the cell surface where leptin binding takes place. The receptors that get to the cell surface may bind to leptin, but their signaling function is impaired. The resulting shortage of leptin signaling disrupts normal feelings of hunger and satiety, leading to the signs and symptoms of this disorder.

Because hypogonadotropic hypogonadism occurs in leptin receptor deficiency, researchers suggest that leptin receptor signaling is also involved in regulating the body's response to hormones that control sexual development, and that this response is affected by LEPR gene mutations. However, the mechanism of this effect is unknown.

Where is the LEPR gene located?

Cytogenetic Location: 1p31

Molecular Location on chromosome 1: base pairs 65,420,651 to 65,637,492

The LEPR gene is located on the short (p) arm of chromosome 1 at position 31.

The LEPR gene is located on the short (p) arm of chromosome 1 at position 31.

More precisely, the LEPR gene is located from base pair 65,420,651 to base pair 65,637,492 on chromosome 1.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about LEPR?

You and your healthcare professional may find the following resources about LEPR 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 LEPR gene or gene products?

  • LEP-R
  • LEPR_HUMAN
  • OBR
  • OB-R
  • OB receptor

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding LEPR?

cell ; 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 (http://ghr.nlm.nih.gov/glossary).

References

  • Clément K, Vaisse C, Lahlou N, Cabrol S, Pelloux V, Cassuto D, Gourmelen M, Dina C, Chambaz J, Lacorte JM, Basdevant A, Bougnères P, Lebouc Y, Froguel P, Guy-Grand B. A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction. Nature. 1998 Mar 26;392(6674):398-401. (http://www.ncbi.nlm.nih.gov/pubmed/9537324?dopt=Abstract)
  • Dubern B, Clement K. Leptin and leptin receptor-related monogenic obesity. Biochimie. 2012 Oct;94(10):2111-5. doi: 10.1016/j.biochi.2012.05.010. Epub 2012 May 22. Review. (http://www.ncbi.nlm.nih.gov/pubmed/22627381?dopt=Abstract)
  • Farooqi IS, Wangensteen T, Collins S, Kimber W, Matarese G, Keogh JM, Lank E, Bottomley B, Lopez-Fernandez J, Ferraz-Amaro I, Dattani MT, Ercan O, Myhre AG, Retterstol L, Stanhope R, Edge JA, McKenzie S, Lessan N, Ghodsi M, De Rosa V, Perna F, Fontana S, Barroso I, Undlien DE, O'Rahilly S. Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. N Engl J Med. 2007 Jan 18;356(3):237-47. (http://www.ncbi.nlm.nih.gov/pubmed/17229951?dopt=Abstract)
  • Kimber W, Peelman F, Prieur X, Wangensteen T, O'Rahilly S, Tavernier J, Farooqi IS. Functional characterization of naturally occurring pathogenic mutations in the human leptin receptor. Endocrinology. 2008 Dec;149(12):6043-52. doi: 10.1210/en.2008-0544. Epub 2008 Aug 14. (http://www.ncbi.nlm.nih.gov/pubmed/18703626?dopt=Abstract)
  • OMIM: LEPTIN RECEPTOR (http://omim.org/entry/601007)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3953)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: October 2013
Published: January 27, 2015