| Species | Homo sapiens |
| Alternate Name(s) | AS, ANCR, E6-AP, EPVE6AP |
| Epilepsy-Associated Disorder(s) | Angelman syndrome |
| Description | ubiquitin protein ligase E3A (HPV E6-associated protein, Angelman syndrome) |
| Chromosome | 15 |
| Locus | 15q11-q13 |
| Reference(s) |
Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet. 1997 Jan;15(1):70-3.
Minassian BA, DeLorey TM, Olsen RW, Philippart M, Bronstein Y, Zhang Q, Guerrini R, Van Ness P, Livet MO, Delgado-Escueta AV. Angelman syndrome: correlations between epilepsy phenotypes and genotypes. Ann Neurol. 1998 Apr;43(4):485-93. Sahoo T, Peters SU, Madduri NS, Glaze DG, German JR, Bird LM, Barbieri-Welge R, Bichell TJ, Beaudet AL, Bacino CA. Microarray-based comparative genomic hybridization testing in deletion-bearing Angelman Syndrome patients: Genotype-phenotype correlations. J Med Genet. 2005 Sep 23; [Epub ahead of print]. |