Magel2 Gene Mutation and Its Associated Phenotypic Features in A Five-Month-Old Female

  • Published 2018

Abstract

Melanoma antigen L2 (MAGE-L2) belongs to the approximately 60 gene MAGE family, which is divided into two subsets based on chromosomal location and expression pattern. MAGE proteins act as ubiquitin ligase regulators in conjunction with E3 RING ubiquitin ligases to form MAGE-RING ligases (MRLs). MAGEL2 has elevated expression in the hypothalamus and… (More)

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