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LEP
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LEP

The information on this page was automatically extracted from online scientific databases.

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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?

From Entrez GeneThis link leads to a site outside Genetics Home Reference.:

This gene encodes a protein that is secreted by white adipocytes, and which plays a major role in the regulation of body weight. This protein, which acts through the leptin receptor, functions as part of a signaling pathway that can inhibit food intake and/or regulate energy expenditure to maintain constancy of the adipose mass. This protein also has several endocrine functions, and is involved in the regulation of immune and inflammatory responses, hematopoiesis, angiogenesis and wound healing. Mutations in this gene and/or its regulatory regions cause severe obesity, and morbid obesity with hypogonadism. This gene has also been linked to type 2 diabetes mellitus development. [provided by RefSeq, Jul 2008]

From UniProtThis link leads to a site outside Genetics Home Reference.:

May function as part of a signaling pathway that acts to regulate the size of the body fat depot. An increase in the level of LEP may act directly or indirectly on the CNS to inhibit food intake and/or regulate energy expenditure as part of a homeostatic mechanism to maintain constancy of the adipose mass.

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

UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the LEP gene's known or predicted involvement in human disease.

Defects in LEP may be a cause of obesity (OBESITY)[1]This link leads to a site outside Genetics Home Reference.. It is a condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat.

Entrez GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the LEP gene.
  • Obesity, severe, due to leptin deficiency[2]This link leads to a site outside Genetics Home Reference.
UniProt and Entrez Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number		Main Topic
[1]601665This link leads to a site outside Genetics Home Reference.OBESITY LEANNESS, INCLUDED
[2]164160This link leads to a site outside Genetics Home Reference.LEPTIN

Where is the LEP gene located?

Cytogenetic Location: 7q31.3

Molecular Location on chromosome 7: base pairs 127,881,330 to 127,897,681

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 127,881,330 to base pair 127,897,681 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 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?

  • FLJ94114
  • OB
  • OBS

See How are genetic conditions and genes named? in the Handbook.

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?

adipocytes ; angiogenesis ; CNS ; deficiency ; diabetes ; diabetes mellitus ; gene ; hypogonadism ; mutation ; protein ; receptor ; regulatory regions

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

See also Understanding Medical Terminology.

 

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.

 
Published: May 21, 2012