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UBE3A
Ubiquitin protein ligase E3AANCR, AS, E6-AP, EPVE6AP, FLJ26981, HPVE6A
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]
Top validated antibodies |
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| Proteintech Group |  10344-1-AP |
6 references | Polyclonal |
WB
EL
ICC
IP
IHC
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| antibodies-online | ABIN393616 |
5 references | Monoclonal |
WB
EL
ICC
IHC
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| Novus Biologicals | H00007337-M01 |
3 references | Monoclonal |
WB
EL
ICC
IHC
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| Abnova Corporation | H00007337-M01 |
1 references | Monoclonal |
WB
EL
ICC
IHC
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| Invitrogen Antibodies | 10344-1-AP |
Polyclonal |
WB
ICC
IP
IHC
OA
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