Magel2 Gene Mutation and Its Associated Phenotypic Features in A Five-Month-Old Female
نویسنده
چکیده
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 functions within a multi-subunit protein complex, which consists of MAGEL2, the TRIM27 E3 ubiquitin ligase, and the USP7 deubiquitinating enzyme. This complex is critical to the cellular process of recycling membrane proteins from endosomes through the retromer sorting pathway via ubiquitination and activation of the WASH actin nucleation promoting factor [1].
منابع مشابه
Magel2 Gene Mutation and Its Associated Phenotypic Features in A Five-Month-Old Female
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 functions within a multi-subunit protein comp...
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