IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, UBE3A
Definition : Molecular assay reagents intended to identify mutations in the ubiquitin protein ligase E3A (human papilloma virus E6-associated protein) (UBE3A) gene, located at chromosome 15q11-q13, which encodes for an E3 ubiquitin-protein ligase. UBE3A is one of many E3 ubiquitin ligases that provide target specificity for the polyubiquitination-initiated proteasomal degradation pathway. This inherited genetic mutation has been identified in patients with Angelman's syndrome.
Entry Terms : "Angelman Syndrome (AS) Gene Mutation Reagents" , "UBE3A Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, UBE3A"
UMDC code : 25004