
UBE3A - Wikipedia
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 …
UBE3A Gene - GeneCards | UBE3A Protein | UBE3A Antibody
Dec 25, 2024 · UBE3A (Ubiquitin Protein Ligase E3A) is a Protein Coding gene. Diseases associated with UBE3A include Angelman Syndrome and Rett Syndrome. Among its related …
UBE3A gene - MedlinePlus
The UBE3A gene provides instructions for making a protein called ubiquitin protein ligase E3A. Ubiquitin protein ligases are enzymes that target other proteins to be broken down (degraded) …
Ube3a unsilencer for the potential treatment of Angelman …
Jul 8, 2024 · Deletion of the maternal UBE3A allele causes Angelman syndrome (AS); because paternal UBE3A is epigenetically silenced by a long non-coding antisense (UBE3A-ATS) in …
UBE3A基因敲除小鼠与天使综合征 - 知乎 - 知乎专栏
UBE3A基因,英文全称为Ubiquitin Protein Ligase E3A,中文名称为泛素蛋白连接酶E3A,该基因编码的UBE3A蛋白是泛素蛋白降解系统的一员。 该 印迹基因 在大脑中以母源染色体表达为 …
UBE3A: Bridging the gap between neurodevelopment, neural
One E3 ligase, UBE3A, has garnered much attention because of its involvement in learning and memory, as well as its association with neurodevelopmental autism spectrum disorders …
【专题】假基因—UBE3A与天使综合征 - 知乎 - 知乎专栏
as是由母源染色体 15q11-13 上编码泛素蛋白连接酶e3的ube3a基因缺失或表达异常所致。ube3a突变包括插入、缺失、无义、错义和剪接位点突变。在 印记基因 调控下,ube3a基因在 …
UBE3A ubiquitin protein ligase E3A [ Homo sapiens (human) ]
Mar 4, 2025 · Title: Ubiquitin-protein ligase E3A (UBE3A) mediation of viral infection and human diseases. The role of UBE3A in the autism and epilepsy-related Dup15q syndrome using …
UBE3A: An E3 Ubiquitin Ligase With Genome-Wide Impact in
Jan 4, 2019 · UBE3A is an E3 ubiquitin ligase encoded by an imprinted gene whose maternal deletion or duplication leads to distinct neurodevelopment disorders Angelman and Dup15q …
UBE3A ubiquitin protein ligase E3A - NIH Genetic Testing …
Aug 23, 2012 · The role of UBE3A in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neurons. Elamin M, Dumarchey A, Stoddard C, Robinson …