Angelman Syndrome (AS) is a neurological disorder characterized by severe mental retardation, seizures and speech impairment, which results from the lack of a functional maternal copy of the E6-AP gene. E6-AP, or Angelman Syndrome-Associated protein, has been shown to interact with the progesterone receptor as a coactivator, enhancing the transcriptional activity of this steroid receptor. Interestingly, E6-AP (UBE3A) is also a member of the E3 ubiquitin-protein ligase family which plays a role in defining the substrate specificity of the ubiquitin-proteasome degradation system. For example, E6-AP can interact directly with the growth and tumor-suppressive protein, p53 or indirectly as part of a human papillomavirus type 16 or 18 E6 protein complex. This interaction promotes the degradation of p53 via the ubiquitin-proteosome pathway. These two functions of E6-AP, coactivation and degradation, are independent of one another. Furthermore, the coactivation function of E6-AP in AS patients remains intact and the ubiquitin-protease function of the protein was compromised. It is unclear, however, how this causes AS.
Applications:
Suitable for use in Western Blot and Immunoprecipitation. Other applications not tested.
Recommended Dilution:
Western Blot: 1:500-1:2500
Optimal dilutions to be determined by the researcher.
Storage and Stability:
May be stored at 4 degrees C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degrees C. Aliquots are stable for 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
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