Product Datasheet
UBE3A Polyclonal Antibody
Catalog Number: 30079
Technical:tech@swbio.com
Information:info@swbio.com
Description
- Swiss-Prot No.:
- Swiss-Prot#:Q05086
NCBI Gene ID:7337
- Form of Antibody:
- Avoid freeze / thaw cycles.|Buffer: PBS with 50% glycerol, pH7.4.
- Immunogen:
- Recombinant fusion protein of human UBE3A (NP_570853.1).
- reactivity:
- Human,Mouse,Rat
- appl_detail:
- WB 1:500 - 1:2000
IHC 1:50 - 1:200
- other_names:
- UBE3A; ANCR; AS; E6-AP; EPVE6AP; HPVE6A; ubiquitin-protein ligase E3A
- Purification:
- Affinity purification
- Background:
- 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.
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