Ataxin-2 is a protein that in humans is encoded by the ATXN2 gene. [5][6] Mutations in ATXN2 cause spinocerebellar ataxia type 2 (SCA2). Ataxin-2 contains the following protein domains: [7] A potential transcript variant, missing an internal coding exon, has been described; however, its full-length nature is not certain. [9]

2024年12月24日 · ATXN2 (Ataxin 2) is a Protein Coding gene. Diseases associated with ATXN2 include Spinocerebellar Ataxia 2 and Parkinson Disease, Late-Onset. Among its related pathways are Akt Signaling and Autodegradation of the E3 ubiquitin ligase COP1. Gene Ontology (GO) annotations related to this gene include RNA binding and obsolete protein C-terminus ...

2019年4月12日 · Ataxin-2是人类中由ATXN2基因编码的蛋白质。ATXN2的突变引起2型脊髓小脑性共济失调（SCA2）。Ataxin-2通过其与poly（A）结合蛋白的相互作用参与调节mRNA翻译。 它还参与应激颗粒和P-体的形成，其也在RNA调节中起作用。

2024年6月14日 · Ataxin-2 (ATXN2) is a versatile protein with key roles in several molecular, cellular, and physiological functions. For example, it binds RNA but also plays a crucial role in regulating the...

Polymorphisms and intermediate alleles in ATXN2 establish this gene as a powerful modulator of neurological diseases including lethal neurodegenerative conditions such as motor neuron disease, spinocerebellar ataxia 3 (SCA3), and peripheral nerve disease such as familial amyloidosis polyneuropathy.

2024年7月22日 · Ataxin-2 (ATXN2) was originally discovered in the context of spinocerebellar ataxia type 2 (SCA2), but it has become a key player in various neurodegenerative diseases. This review delves into the multifaceted roles of ATXN2 in human diseases, revealing its diverse molecular and cellular pathways.

2021年8月1日 · ATXN2 is one of the few genes where a single gene causes several diseases and/or modifies several and disparate neurological disorders. Hence, understanding mutagenesis, genetic variants, and biological functions will help managing SCA2, and several human diseases connected with dysfunctional pathwa …

2025年1月5日 · Title: Clinical features, disease progression, and nuclear imaging in ATXN2-related parkinsonism in a longitudinal cohort. Structured and disordered regions of Ataxin-2 contribute differently to the specificity and efficiency of mRNP granule formation.

ATXN2 CAG expansion is the sole causative mutation responsible for parkinsonian phenotype of spinocerebellar ataxia-2. results indicate presence of intermediate CAG repeat expansion in the ATXN2 gene is a specific genetic risk factor for amyotrophic …

这个基因属于一组与微卫星扩张疾病相关的基因，这类神经系统和神经肌肉疾病是由短重复DNA片段扩张引起的。 这个基因编码的蛋白质在N端附近有两个球形结构域，其中一个含有氯素介导的跨高尔基信号和内质网出口信号。 该编码的细胞质蛋白定位在内质网和质膜上，参与内吞作用，并调节mTOR信号，修改核糖体翻译和线粒体功能。 蛋白质的N端区域含有一个14-31个残基的聚谷氨酰胺轨道，在病理状态下可以扩张到32-200个残基。 这个轨道的中等长度扩张增加对肌萎缩 …