Skip to search formSkip to main contentSkip to account menu

ATXN2 gene

Known as: trinucleotide repeat containing 13, ATAXIN 2, ATXN2 
This gene plays a role in receptor trafficking.
National Institutes of Health

Related topics

Related topics

8 relations
ATXN2 protein, humanATXN2L geneHomo sapiensIntracellular Transport

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
(CAG)n loci as genetic modifiers of age at onset in patients with spinocerebellar ataxia type 1 from mainland China
The expanded repeat length in ATXN1 negatively correlates with age at onset (AAO) of spinocerebellar ataxia type 1 (SCA1) but can… 
2018
2018
Intermediate-length CAG repeat in ATXN2 is associated with increased risk for amyotrophic lateral sclerosis in Brazilian patients
Review
2017
Review
2017
C9ORF72 is a GDP/GTP exchange factor for Rab8 and Rab39 and regulates autophagy
ABSTRACT Amyotrophic Lateral Sclerosis and Frontotemporal Dementia (ALS-FTD) are devastating neurodegenerative disease affecting… 
2017
2017
Neurological phenotypes in spinocerebellar ataxia type 2: Role of mitochondrial polymorphism A10398G and other risk factors.
Highly Cited
2013
Highly Cited
2013
Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease
Recently, a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72 was reported as the cause of chromosome 9p21… 
2012
2012
CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis
2012
2012
Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation
Objective To classify familial amyotrophic lateral sclerosis (FALS) on the base of family history, and to determine whether… 
2009
2009
Genetic Variance in the Spinocerebellar Ataxia Type 2 (ATXN2) Gene in Children with Severe Early Onset Obesity
Background Expansion of a CAG repeat in the coding region of exon 1 in the ATXN2 gene located in human chromosome 12q24.1 causes… 
2009
2009
Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24
Objective: Hereditary spastic paraplegias (HSP) are genetically exceedingly heterogeneous. To date, 37 genetic loci for HSP have… 
2002
2002
Accurate determination of ataxin-2 polyglutamine expansion in patients with intermediate-range repeats.
Spinocerebellar ataxia, type 2 (SCA2), results from an expansion of a stretch of polyglutamine repeats within the coding sequence… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)