2024年12月24日 · ATXN3 (Ataxin 3) is a Protein Coding gene. Diseases associated with ATXN3 include Machado-Joseph Disease and Parkinson Disease, Late-Onset. Among its related pathways are Gene expression (Transcription) and Metabolism of proteins.

Machado–Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by the ATXN3 gene contains CAG repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is the cause of Machado–Joseph disease.

野生型ataxin-3蛋白是一个相对分子质量为 (40-43)×103的小分子蛋白，广泛表达于中枢神经系统以及其他组织的细胞质和细胞核中。 突变型的ataxin-3蛋白相对分子质量较大，其原因为C末端有延长的polyQ肽链。 研究显示，扩展突变型polyQ编码的ataxin-3蛋白中所含的polyQ蛋白大多为截短的polyQ蛋白，故产生polyQ蛋白毒性片段学说。 并且，相对于全长polyQ蛋白而言，毒性片段越短、其细胞毒性越强。 2016年中国科学院动物研究所唐铁山研究组通过免疫沉淀及质谱分析发 …

2025年2月9日 · Title: Involvement of Ataxin-3 (ATXN3) in the malignant progression of pancreatic cancer via deubiquitinating HDAC6. ATXN3 controls DNA replication and transcription by regulating chromatin structure.

In this review, we summarize the main functions of ATXN3 in proteostasis, DNA repair and transcriptional regulation, as well as the emerging role in regulating chromatin structure. The mentioned molecular functions of ATXN3 are also reviewed in the context of the pathological expanded form of ATXN3.

The ATXN3 gene provides instructions for making an enzyme called ataxin-3, which is found in cells throughout the body. Ataxin-3 is involved in a mechanism called the ubiquitin-proteasome system that destroys and gets rid of excess or damaged proteins.

2019年1月11日 · Ataxin-3 is a deubiquitinating enzyme and the affected protein in the neurodegenerative disorder Machado-Joseph disease (MJD). The ATXN3 gene is alternatively spliced, resulting in protein isoforms that differ in the number of ubiquitin-interacting motifs.

2023年6月23日 · The deubiquitinating enzyme Ataxin-3 (ATXN3) contains a polyglutamine (PolyQ) region, the expansion of which causes spinocerebellar ataxia type-3 (SCA3). ATXN3 has multiple functions, such as regulating transcription or controlling genomic stability after DNA damage. Here we report the role of ATXN3 …

2025年1月5日 · Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease.

Machado-Joseph 病，也称为脊髓小脑性共济失调 3，是一种常染色体显性遗传的神经系统疾病。 该基因编码的蛋白质在编码区含有 (CAG) n 重复序列，这些重复序列从正常的 12-44 增加到 52-86 是导致 Machado-Joseph 病的原因之一。 发病年龄与 CAG 重复数呈负相关。 已经针对该基因描述了编码不同亚型的选择性剪接转录物变体。 [RefSeq 提供，2016 年 7 月] Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder.