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 .

2024年12月25日 · UBE3A (Ubiquitin Protein Ligase E3A) is a Protein Coding gene. Diseases associated with UBE3A include Angelman Syndrome and Rett Syndrome. Among its related pathways are Class I MHC mediated antigen processing and presentation and MIF Mediated Glucocorticoid Regulation.

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) within cells.

2024年7月8日 · 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 neurons, this nearly...

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主，而在其他组织中则呈现为父源、母源等位表达。

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 (ASDs). However, more recent findings have suggested a potential involvement of UBE3A in neurodegenerative proteinopathies, where reduced UBE3A levels can lead to an ...

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基因在人体不同组织表达具有差异性，正常颅脑组织内母源ube3a基因表达活跃，父源ube3a基因不表达。

2025年3月4日 · 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 patient-derived, CRISPR-corrected neurons.

2019年1月4日 · UBE3A is an E3 ubiquitin ligase encoded by an imprinted gene whose maternal deletion or duplication leads to distinct neurodevelopment disorders Angelman and Dup15q syndromes. Despite the known genetic basis of disease, how changes in copy number of a ubiquitin ligase gene can have widespread impact …

2012年8月23日 · 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 TM, Cowie C, Gorka D, Chamberlain SJ, Levine ESElamin M, et al. Stem Cell Reports, 2023 Apr 11. PMID 36898382