[ATX7_HUMAN] Spinocerebellar ataxia type 7. The disease is caused by mutations affecting the gene represented in this entry.
[ATX7_HUMAN] Acts as component of the STAGA transcription coactivator-HAT complex. Mediates the interaction of STAGA complex with the CRX and is involved in CRX-dependent gene activation. Necessary for microtubule cytoskeleton stabilization.
↑ Nakamura Y, Tagawa K, Oka T, Sasabe T, Ito H, Shiwaku H, La Spada AR, Okazawa H. Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network. Hum Mol Genet. 2012 Mar 1;21(5):1099-110. doi: 10.1093/hmg/ddr539. Epub 2011 Nov , 18. PMID:22100762 doi:http://dx.doi.org/10.1093/hmg/ddr539