But if E6-ap doesn't normally act on p53.. what is its actual role in cells?? Angelman syndrome (Image removed due to copyright considerations. The E3 ligase E6-AP is actually encoded by the human UBE3A gene. UBE3A is expresse biallelically in most human tissues, but is genetically imprinted in the brain of humans and mice where only the maternal allele is expressed in the hippocampal and cerebullar neurons Loss of function mutations in the maternal gene, paternal uniparental disomy, and imprinting mutations that prevent expression of both alleles result in Angelman syndrome(AS).An overabundance of the proteins targeted by functional E6-aP is the cause of the neurological defects observed in As patients. Angelman syndrome is a neurological disorder characterized by severe congenital mental retardation, unusual facial appearance, and muscular abnormalities. Symptoms of Angelman syndrome include unstable jerky gait, hand flapping, unusually happy demeanor, developmental delay, lack of or diminished speech, and microcephaly(small head). Epilepsy may develop in the early years of life, however it may decrease with age. Patients may also have balance problems Among other roles, E6-associated protein(E6-AP/UBE3A)directly interacts with and hormone-dependent manner. E6-AP has also been found to regulate the Src family of nonreceptor tyrosine kinases. The Src family of nonreceptor tyrosine kinases are important regulators of a variety of cellular processes, including cytoskeletal organization, cell-cell contact, and cell-matrix adhesion. Activation of Src family theref tightBut if E6-AP doesn’t normally act on p53..what is its actual role in cells?? “Angelman syndrome” The E3 ligase E6-AP is actually encoded by the human UBE3A gene. UBE3A is expressed biallelically in most human tissues, but is genetically imprinted in the brain of humans and mice where only the maternal allele is expressed in the hippocampal and cerebullar neurons. Loss of function mutations in the maternal gene, paternal uniparental disomy, and imprinting mutations that prevent expression of both alleles result in Angelman syndrome (AS). An overabundance of the proteins targeted by functional E6-AP is the cause of the neurological defects observed in AS patients. Angelman syndrome is a neurological disorder characterized by severe congenital mental retardation, unusual facial appearance, and muscular abnormalities. Symptoms of Angelman syndrome include unstable jerky gait, hand flapping, unusually happy demeanor, developmental delay, lack of or diminished speech, and microcephaly (small head). Epilepsy may develop in the early years of life, however it may decrease with age. Patients may also have balance problems. Among other roles, E6-associated protein (E6-AP/UBE3A) directly interacts with and coactivates the transcriptional activity of the human progesterone receptor (PR) in a hormone-dependent manner. E6-AP has also been found to regulate the Src family of nonreceptor tyrosine kinases. The Src family of nonreceptor tyrosine kinases are important regulators of a variety of cellular processes, including cytoskeletal organization, cell–cell contact, and cell–matrix adhesion. Activation of Src family kinases also can induce DNA synthesis and cellular proliferation; therefore, tight (Image removed due to copyright considerations.)