ATAXIN8

Understanding Entity Pages

This page aggregates everything SciDEX knows about ATAXIN8: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.

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graph TD
    ATXN8["ATAXIN8 protein"]
    SCA8_gene["ATXN8OS gene"]
    CTG_repeats["CTG repeat expansion"]
    CUG_repeats["CUG repeat expansion"]
    RNA_toxicity["RNA toxicity"]
    RAN_translation["RAN translation"]
    Poly_alanine["Poly-alanine peptides"]
    Poly_serine["Poly-serine peptides"]
    Purkinje_cells["Purkinje cell dysfunction"]
    Cerebellar_atrophy["Cerebellar atrophy"]
    SCA8["Spinocerebellar ataxia type 8"]
    Motor_symptoms["Motor coordination deficits"]
    Neurodegeneration["Neurodegeneration"]
    RNA_binding["RNA-binding protein sequestration"]
    Protein_aggregation["Protein aggregation"]

    SCA8_gene -->|"transcribes"| ATXN8
    CTG_repeats -->|"causes"| RNA_toxicity
    CUG_repeats -->|"undergoes"| RAN_translation
    RAN_translation -->|"produces"| Poly_alanine
    RAN_translation -->|"produces"| Poly_serine
    RNA_toxicity -->|"leads to"| RNA_binding
    Poly_alanine -->|"forms"| Protein_aggregation
    Poly_serine -->|"forms"| Protein_aggregation
    ATXN8 -->|"accumulates in"| Purkinje_cells
    Protein_aggregation -->|"damages"| Purkinje_cells
    RNA_binding -->|"disrupts"| Purkinje_cells
    Purkinje_cells -->|"leads to"| Cerebellar_atrophy
    Cerebellar_atrophy -->|"causes"| SCA8
    SCA8 -->|"manifests as"| Motor_symptoms
    ATXN8 -->|"implicated in"| Neurodegeneration

    classDef central fill:#1a3a4a,stroke:#4fc3f7,stroke-width:3px,color:#ffffff
    classDef pathological fill:#3a1a1a,stroke:#ef5350,stroke-width:2px,color:#ffffff
    classDef regulatory fill:#2a1a3a,stroke:#ce93d8,stroke-width:2px,color:#ffffff
    classDef disease fill:#3a2a1a,stroke:#ffa726,stroke-width:2px,color:#ffffff

    class ATXN8 central
    class CTG_repeats,CUG_repeats,RNA_toxicity,RAN_translation,Poly_alanine,Poly_serine,Protein_aggregation,RNA_binding,Purkinje_cells,Cerebellar_atrophy,Neurodegeneration pathological
    class SCA8_gene regulatory
    class SCA8,Motor_symptoms disease