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Details for messenger / hormone: ataxin-7

EndoNet ID: ENH00971

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Synonyms

  • spinocerebellar ataxia type 7 protein
  • ATXN7
  • SCA7
  • ataxin-7

General information

  • SCA7 is a neurodegenerative disease caused by a polyglutamine expansion in the ataxin 7 protein, a member of a multiprotein complex involved in histone acetylation. [1]
  • ATXN7 are the cause of spinocerebellar ataxia 7 (SCA7), also known as olivopontocerebellar atrophy III (OPCA III or OPCA3). [2]
  • Disaggregation of the inclusions correlated with improved locomotor function and increased lifespan, when expression of expanded ATXN7T was stopped, suggesting that the pathology may respond to treatment. [1]
  • ATXN7 is specifically over-expressed with polyQ (polyglutamine expansion) in rod photoreceptors of the R7E mouse, this polyQ-induced cellular stress leads to repression of genes necessary for neuronal fate and function. [3]
  • The poly-Gln region of ATXN7 is highly polymorphic (4 to 18 repeats) in the normal population and is expanded to about 38-130 repeats in SCA7 patients. [2]
  • Function: Ataxin-7 upregulates Bax expression and p53 transcriptionally activity in cerebellar and inferior olivary neurons. Thus it plays an important role in induction of apoptosis. [4]

Classification

Hormone function

  • development and growth
    • apoptosis

    Chemical classification

    • hormone
      • genome-encoded
        • polyglutamine proteins

      Links to other resources

      UniProt O15265
      Ensembl ENST00000487717
      KEGG hsa:6314

      • Anatomical structure: bergmann_glia

        • Bergmann glia-specific expression of mutant ataxin-7 was sufficient to produce ataxia and neurodegeneration. [5]

      Targets

      Cell
      No records found.
      Reference