UBE3A [SEP] found in taxon
gene inherited from a person's father (the paternal copy) is normally inactive in the brain, a mutation in the remaining maternal copy prevents any of the enzyme from being produced in the brain. This loss of enzyme function likely causes the characteristic features of these two conditions.
The UBE3A gene lies within the human chromosomal region 15q11-13. Other abnormalities in this region of chromosome 15 can also cause Angelman syndrome. These chromosomal changes include deletions, rearrangements (translocations) of genetic material, and other abnormalities. Like
ATS" part of "LNCAT", since non-coding antisense transcripts are often found at imprinted loci. The deletion and/or mutation of "Ube3a" on the maternal chromosome causes Angelman Syndrome (AS) and "Ube3a-ATS" may prove to be an important aspect in finding a therapy for this disease. While in patients with AS the maternal "Ube3a" allele is inactive, the paternal allele is intact but epigenetically silenced. If unsilenced, the paternal allele could be a source of active Ube3a protein in AS patients