背景
This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation
system. This imprinted gene is maternally expressed in brain and biallelically expressed in
other tissues. Maternally inherited deletion of this gene 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. Alternative splicing of this gene results in three transcript variants encoding
three isoforms with different N-termini. Additional transcript variants have been described,
but their full length nature has not been determined.
