This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| UBE3A-20-RE | 20 (40 μL) | 200 μL |  |
Request Pricing |
| UBE3A-20-OR | 20 (40 μL) | 200 μL |  |
Request Pricing |
| UBE3A-20-GO | 20 (40 μL) | 200 μL |  |
Request Pricing |
| UBE3A-20-GR | 20 (40 μL) | 200 μL |  |
Request Pricing |
| UBE3A-20-AQ | 20 (40 μL) | 200 μL |  |
Request Pricing |
This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
Gene Symbol : UBE3A
Gene Name : Ubiquitin protein ligase E3A
Chromosome : CHR 15: 254,390,85-253,372,33
Locus : 15q11.2
Alt. Genes : ZNF263
Lorem Ipsum is simply dummy text of the printing and typesetting industry.
Lorem Ipsum is simply dummy text of the printing and typesetting industry.