Leptin receptor gene is mapped onchromosome 1p31.3 that contains 18 exons with 34 amino acids and belongs to the gp130 family of cytokine receptors known to stimulate gene transcription through activation of cytosolic STAT proteins. It is a predominant signaling competent isoform due to the expressions of several signaling designs within its C-terminal domain.
Leptin receptor is found in many tissues that exist as a homodimer activated by conformational changes that occurs following the ligand binding. A high specific hypothalamic nucleus involved in regulating energy homeostasis which is enriched with leptin receptors including many hypothalamic brain regions like hippocampus, brain stem, cerebellum and substantia nigra.
Leptin receptor deficiency caused severeobesity wherein affected individual have a normal weight at birth but become constantly hungry and quickly gain weight that leads to chronic excessive eating. It is also associated in hypogonadotropic hypogonadism a condition caused by reduced production of hormones that direct sexual development showing delayed puberty or not goes through puberty that leads to infertility.
Gene name: LEPR
Protein name: Leptin receptor