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]
Host
Rabbit
Immunogen
Rabbit polyclonal UBE3A (1) antibody was raised against a recombinate human UBE3A protein 342-585aa (BC009271).
Quantity
100 µl
Reactivity
Rat, Mouse, Human
Recombinant
FALSE
Regulatory
RUO
Shipping Condition
Ice Packs
Buffer
PBS, pH 7.4 with 0.02% Sodium Azide
Concentration
100µg/100ul
Description
Specificity: Human and predicted against mouse and rat.
Format
Liquid
Purity
Affinity purified
Storage
This product is stable for several weeks at 4°C as an undiluted liquid. Dilute only prior to immediate use. For extended storage, aliquot contents and freeze at -20°C or below. Avoid cycles of freezing and thawing. Expiration date is one (1) year from date of receipt.