Monoclonal Anti-UBE3A antibody produced in mouse, clone 2F6, purified immunoglobulin, buffered aqueous solution

Not available outside of the UK & Ireland.

Biochem/physiol Actions

The ubiquitin protein ligase E3A (UBE3A) functions as E3 ligase in the ubiquitin-proteasome pathway and act as transcriptional coactivator of steroid hormone receptors such as progesterone, estrogen and other hormone receptors. During papilloma virus infection, ubiquitin protein ligase E3A (UBE3A), along with E6 viral protein, plays a vital role in degradation of the cell cycle regulatory protein p53. Anomalistic degradation of p53 can cause cervical cancer. Inactivation or deletion of UBE3A gene leads to the neurodevelopmental disorder Angelman syndrome (AS), while overexpression of maternal UBE3A gene is associated with autism pathogenesis. Therefore UBE3A level has to be properly controlled for normal brain development.

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General description

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)

Immunogen

UBE3A (AAH09271, 51 a.a. ~ 150 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.SequenceETFQQLITYKVISNEFNSRNLVNDDDAIVAASKCLKMVYYANVVGGEVDTNHNEEDDEEPIPESSELTLQELLGEERRNKKGPRVDPLETELGVKTLDCR

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Physical form

Solution in phosphate buffered saline, pH 7.4