Ataxin 7
| ataxin 7 | |||||||
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| Identifiers | |||||||
| Symbol | ATXN7 | ||||||
| Alt. symbols | SCA7 | ||||||
| NCBI gene | 6314 | ||||||
| HGNC | 10560 | ||||||
| OMIM | 607640 | ||||||
| RefSeq | NM_000333 | ||||||
| UniProt | O15265 | ||||||
| Other data | |||||||
| Locus | Chr. 3 p21.1-p12 | ||||||
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Ataxin 7 (ATXN7) is a protein of the SCA7 gene, which contains 892 amino acids with an expandable poly(Q) region close to the N-terminus. The expandable poly(Q) motif region in the protein contributes crucially to spinocerebellar ataxia (SCA) pathogenesis by the induction of intranuclear inclusion bodies. ATXN7 is associated with both olivopontocerebellar atrophy type 3 (OPCA3) and spinocerebellar ataxia type 7 (SCA7).
CAG repeat leads to pathological protein misfolding. In ataxin-7 gene has shown to cause cerebellar and brainstem degeneration as well as retinal conerod dystrophy. Polyglutamine (polyQ) expansion at the N-terminus of ataxin-7 causes protein aggregation, leading to the symptoms of ataxia with visual loss.
Research suggest that silencing of ataxin-7 in the retina by RNAi can be a possible therapeutic strategy for patients with SCA7 retinal degeneration.
Further reading
- Janer A, Martin E, Muriel MP, Latouche M, Fujigasaki H, Ruberg M, et al. (July 2006). "PML clastosomes prevent nuclear accumulation of mutant ataxin-7 and other polyglutamine proteins". The Journal of Cell Biology. 174 (1): 65–76. doi:10.1083/jcb.200511045. PMC 2064165. PMID 16818720.
- Helmlinger D, Hardy S, Eberlin A, Devys D, Tora L (2006). "Both normal and polyglutamine- expanded ataxin-7 are components of TFTC-type GCN5 histone acetyltransferase- containing complexes". Biochemical Society Symposium. 73 (73): 155–163. doi:10.1042/bss0730155. PMID 16626296.
- Wang HL, Yeh TH, Chou AH, Kuo YL, Luo LJ, He CY, et al. (April 2006). "Polyglutamine-expanded ataxin-7 activates mitochondrial apoptotic pathway of cerebellar neurons by upregulating Bax and downregulating Bcl-x(L)". Cellular Signalling. 18 (4): 541–552. doi:10.1016/j.cellsig.2005.05.024. PMID 15964171.
- Ansorge O, Giunti P, Michalik A, Van Broeckhoven C, Harding B, Wood N, Scaravilli F (September 2004). "Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats". Annals of Neurology. 56 (3): 448–452. doi:10.1002/ana.20230. PMID 15349877. S2CID 8148133.
- Helmlinger D, Hardy S, Sasorith S, Klein F, Robert F, Weber C, et al. (June 2004). "Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes". Human Molecular Genetics. 13 (12): 1257–1265. doi:10.1093/hmg/ddh139. PMID 15115762.
External links
- GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 7
- ataxin-7 at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- Online Mendelian Inheritance in Man (OMIM): 164500
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Structures of the cell nucleus / nuclear protein
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Envelope (membrane)/ nuclear lamina |
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see also nucleus diseases | |||||||||||||