Structural and Functional Characterization of the Pro64Ser Leptin Mutant: Implications for Congenital Leptin Deficiency.

Congenital leptin deficiency or dysfunction is a form of monogenic childhood obesity. The disease is primarily caused by mutations in the LEP gene, which encodes for the expression of a hormone called leptin. The mutations typically impair leptin synthesis, secretion, or binding to the leptin receptor (LepR).