E6AP (Ubiquitin-protein Ligase E3A, E6AP Ubiquitin-protein Ligase, Oncogenic Protein-associated Protein E6-AP, Human Papillomavirus E6-associated Protein, Renal Carcinoma Antigen NY-REN-54, UBE3A, EPVE6AP, HPVE6A)

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.\n\nApplications:\nSuitable for use in Western Blot and Immunoprecipitation. Other applications not tested.\n\nRecommended Dilution:\nWestern Blot: 1:500-1:2500\nOptimal dilutions to be determined by the researcher.\n\nStorage and Stability:\nMay 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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