UBE3A [SEP] chromosome
through the Ube3a-ATS part of a lincRNA called "LNCAT", (Large Non-Coding Antisense Transcript).
The UBE3A gene is located on the long (q) arm of chromosome 15 between positions 11 and 13, from base pair 23,133,488 to base pair 23,235,220.
Clinical significance.
Mutations within the UBE3A gene are responsible for some cases of Angelman syndrome and Prader-Willi syndrome. Most of these mutations result in an abnormally short, nonfunctional version of ubiquitin protein ligase E3A. Because the copy of the
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