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...

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 Regulation of activated PAK-2p34 by proteasome mediated degradation.

Recent studies have identified the RNA-binding protein Ataxin-2 as a genetic determinant or risk factor for various diseases including spinocerebellar ataxia type II (SCA2) and amyotrophic lateral sclerosis (ALS), amongst others.

The increasing knowledge of ATXN2 in several disparate neurological diseases resembles the major impact polymorphisms at different codons in the prion protein gene (PRNP) have over both sporadic and familial prion diseases.

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.

Ataxin-2 (ATXN2) is a eukaryotic RNA-binding protein that is conserved from yeast to human. Genetic expansion of a poly-glutamine tract in human ATXN2 has been implicated in several neurodegenerative diseases, likely acting through gain-of-function effects.

2025年1月5日 · Direct binding of Ataxin-2 to distinct elements in 3' UTRs promotes mRNA stability and protein expression. Yokoshi M, et al. Mol Cell, 2014 Jul 17. PMID 24954906. What's a GeneRIF? Abnormal open states patterns in the ATXN2 DNA …

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.

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 overall body metabolism [1 – 4] and the circadian rhythm [5 – 7].