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Human LEPR wild-type allele is located within 1p31 and is approximately 212 kb in length. This allele, which encodes leptin receptor protein, plays a role in the regulation of adipose-tissue mass through hypothalamic effects on satiety and energy expenditure. The allele is also involved in the regulation of lipid metabolism through hypothalamic effects, angiogenesis, lymphopoiesis, and possibly reproduction. Dysfunction of the gene is associated with diabetes and obesity.
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