ATXN7
Description
The ATXN7 (ataxin 7) is a protein-coding gene located on chromosome 3.
Ataxin 7 (ATXN7) is a protein encoded by the SCA7 gene, comprising 892 amino acids with a poly(Q) region near the N-terminus. This poly(Q) region is crucial for the development of spinocerebellar ataxia (SCA) by forming intranuclear inclusion bodies. ATXN7 is associated with both olivopontocerebellar atrophy type 3 (OPCA3) and spinocerebellar ataxia type 7 (SCA7). Expansion of the CAG repeat leads to abnormal protein folding. Mutations in the ataxin-7 gene cause degeneration of the cerebellum and brainstem, as well as retinal cone dystrophy. The polyglutamine (polyQ) expansion at the N-terminus of ataxin-7 causes protein aggregation, leading to ataxia and visual loss. Research suggests that silencing ataxin-7 expression in the retina using RNAi could be a potential therapeutic strategy for SCA7-related retinal degeneration.
Ataxin-7 plays a role in gene regulation by being part of the STAGA transcription coactivator-HAT complex. It bridges the STAGA complex with CRX, leading to the activation of genes regulated by CRX. Additionally, ataxin-7 is essential for the stability of the microtubule cytoskeleton.
ATXN7 is also known as ADCAII, OPCA3, SCA7, SGF73.
