Full Name: Leptin Receptor

Genomic Location: Chromosome 1:65,420,652-65,641,559

Protein Size: 1165 amino acids


The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations in this gene have been associated with obesity and pituitary dysfunction. 

Linked SNP(s):

  • rs1137101 is linked to LEPR, it is located within the coding region.
  • Population frequencies are approximately 49% for the reference allele (A) and 51% for the alternate allele (G).
  • Studies suggest the G allele is associated with reduced physical activity, greater gains from resistance training, an increased risk for obesity that can be mitigated through a healthy diet avoiding bad fats.
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