MAGEL2 exerts pleiotropic functions in the human body, particularly because of its role in the hypothalamus, a brain region at the centre of organismal homeostasis that is critical for both individual and species success. In mouse models, MAGEL2 regulates the cell cycle, neuronal signal transduction, neurite growth, and muscle function. Because the maternal genetic region is silenced through methylation, all classes of mutations in the maternal MAGEL2 allele are clinically insignificant. However, pathogenic mutations on the paternal allele, which is expressed, are detrimental to neural and muscular development and are responsible for a number of human syndromes.(PMID: 31397880,PMID: 38950199)