Atxn10 Gene Ataxin 10 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
ATXN10 (Ataxin 10) encodes a protein associated with spinocerebellar ataxia type 10 (SCA10), a progressive neurodegenerative disorder characterized by cerebellar ataxia and seizure disorders. [@mcfarland2014]
Overview
This page provides comprehensive information about the ATXN10 gene, its function in neuronal cells, disease associations, and therapeutic approaches for spinocerebellar ataxia. [@chen2008]
Atxn10 Gene Ataxin 10 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
ATXN10 (Ataxin 10) encodes a protein associated with spinocerebellar ataxia type 10 (SCA10), a progressive neurodegenerative disorder characterized by cerebellar ataxia and seizure disorders. [@mcfarland2014]
Overview
This page provides comprehensive information about the ATXN10 gene, its function in neuronal cells, disease associations, and therapeutic approaches for spinocerebellar ataxia. [@chen2008]
Basic Information
Function
Ataxin 10 is a soluble cytoplasmic protein expressed predominantly in neuronal tissues:
Cellular Functions
Neuronal Survival: Essential for neuronal viability and function
RNA Metabolism: Involved in RNA processing and translation
Cellular Stress Response: Participates in cellular stress response pathways
Mitochondrial Function: May influence mitochondrial dynamics
Expression Pattern
Highest expression in cerebellum (Purkinje cells)
High expression in cerebral [cortex](/brain-regions/cortex)
Expressed in spinal cord
Lower expression in peripheral tissues
Disease Associations
Spinocerebellar Ataxia Type 10 (SCA10)
SCA10 is characterized by:
Inheritance: Autosomal dominant
Onset: Typically in adulthood (ages 20-40)
Core Symptoms:
Progressive cerebellar ataxia (gait instability)
Dysarthria (speech difficulty)
Nystagmus (involuntary eye movements)
Limb incoordination
Additional Features:
Epilepsy (in ~30% of patients)
Cognitive impairment (in some cases)
Peripheral neuropathy
Disease Progression: Slowly progressive, leading to severe disability over decades
Geographic Prevalence: Most common in Latin American populations (Mexico, Argentina, Brazil)
Molecular Pathology
ATTCT Repeat Expansion: Unstable pentanucleotide repeat (ATTCT) in intron 9
The study of Atxn10 Gene Ataxin 10 has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Brain Atlas Resources
Allen Human Brain Atlas
[Gene Expression Search](https://human.brain-map.org/microarray/search/show?search_term=ATXN10): Search for ATXN10 expression in human brain
[Normalized Expression Data](https://human.brain-map.org/microarray): View expression levels across brain regions
BrainSpan Transcriptional Atlas
[Developmental Expression](https://brainspan.org/static/atlas.html): ATXN10 expression across brain development
Relevant Resources
[Allen Mouse Brain Atlas](https://mouse.brain-map.org/): Mouse expression data for comparative analysis
References
[Matsuura T, et al, "Spinocerebellar ataxia type 10: clinical features." Neurology (2006)](https://pubmed.ncbi.nlm.nih.gov/16717114/)
[McFarland KN, et al, "RNA pathogenesis in SCA10." Nat Neurosci (2014)](https://pubmed.ncbi.nlm.nih.gov/25266488/)
[Chen DH, et al, "ATXN10 repeat expansions in SCA10." Am J Hum Genet (2008)](https://pubmed.ncbi.nlm.nih.gov/18460315/)
[Liu W, et al, "Therapeutic approaches for SCA10." Mol Ther (2022)](https://pubmed.ncbi.nlm.nih.gov/35293548/)