UBE3A

Ubiquitin-protein ligase E3A (UBE3A) also known as E6AP ubiquitin-protein ligase (E6AP) is an enzyme that in humans is encoded by the UBE3A gene. This enzyme is involved in targeting proteins for degradation within cells.4GIZ, 1C4Z, 1D5F, 1EQX, 2KR1733722215ENSG00000114062ENSMUSG00000025326Q05086O08759NM_001354509NM_001354512NM_001354523NM_001354526NM_001354540NM_001354541NM_001354543NM_001354545NM_001354547NM_001354549NM_001354550NM_001354507NM_001354508NM_001354511NM_001354513NM_001354538NM_001354539NM_001354542NM_001354544NM_001354546NM_001354548NM_001354551NM_001033962NM_011668NM_173010NP_001341438NP_001341441NP_001341452NP_001341455NP_001341469NP_001341470NP_001341472NP_001341474NP_001341476NP_001341478NP_001341479NP_001341436NP_001341437NP_001341440NP_001341442NP_001341467NP_001341468NP_001341471NP_001341473NP_001341475NP_001341477NP_001341480NP_001029134NP_035798NP_766598Mutations within the UBE3A gene are responsible for some cases of Angelman syndrome and Prader-Willi syndrome. Most of these mutations result in an abnormally short, nonfunctional version of ubiquitin protein ligase E3A. Because the copy of the gene inherited from a person's father (the paternal copy) is normally inactive in the brain, a mutation in the remaining maternal copy prevents any of the enzyme from being produced in the brain. This loss of enzyme function likely causes the characteristic features of these two conditions.UBE3A has been shown to interact with: