UBE3A is an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted protein is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this protein causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53 (1).
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