Variants
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LEP Gene

leptin

ALIAS SYMBOLS

  • None

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Description

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).

CHROMOSOME

7


LOCATION

q32.1


LOCUS TYPE

gene with protein product

VARIANTS

84

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Phenotypes

External Links

  • HGNC

    HGNC:6553

  • NCBI

    3952

  • OMIM

    164160

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