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Genetic alterations in UBE3A locus. The UBE3A gene is located in chromosome 15 region q11.2-q13. Typically, only the maternal copy is expressed while the paternal copy is silenced in neurons. In Angelman syndrome (AS), the maternal allele is deleted or mutated. Multiple copies of UBE3A are expressed in Dup15q syndrome, which is characterized by autism spectrum disorder (ASD) phenotypes.
