LEPR

Full Name: Leptin Receptor

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

Protein Size: 1165 amino acids

Function:

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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