Gene Symbol: Atxn7
Description: ataxin 7
Alias: RGD1562692, ataxin-7
Strom A, Jonasson J, Hart P, Brannstrom T, Forsgren L, Holmberg M. Cloning and expression analysis of the murine homolog of the spinocerebellar ataxia type 7 (SCA7) gene. Gene. 2002;285:91-9 pubmed
..Our data show high conservation of ataxin-7 both structurally and at the level of expression, suggesting a conserved role for the protein in mice and humans. ..
Chen S, Peng G, Wang X, Smith A, Grote S, Sopher B, et al
. Interference of Crx-dependent transcription by ataxin-7 involves interaction between the glutamine regions and requires the ataxin-7 carboxy-terminal region for nuclear localization. Hum Mol Genet. 2004;13:53-67 pubmed
..The results suggest that one mechanism of SCA7 disease pathogenesis is transcription dysregulation, and that Crx transcription interference is a predominant factor in SCA7 cone-rod dystrophy retinal degeneration. ..
Gatchel J, Watase K, Thaller C, Carson J, Jafar Nejad P, Shaw C, et al
. The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7. Proc Natl Acad Sci U S A. 2008;105:1291-6 pubmed publisher
..These data define one common pathogenic response in SCA1 and SCA7 and reveal the importance of intercellular mechanisms in their pathogenesis. ..
Nakamura Y, Tagawa K, Oka T, Sasabe T, Ito H, Shiwaku H, et al
. Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network. Hum Mol Genet. 2012;21:1099-110 pubmed publisher
The spinocerebellar ataxia type 7 (SCA7) gene product, Ataxin-7 (ATXN7), localizes to the nucleus and has been shown to function as a component of the TATA-binding protein-free TAF-containing-SPT3-TAF9-GCN5-acetyltransferase ..