Biology:Ataxin 10

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

Ataxin-10 is a protein that in humans is encoded by the ATXN10 gene.

Clinical significance

The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders characterized by ataxia, dysarthria, dysmetria, and intention tremor. All ADCAs involve some degree of cerebellar dysfunction and a varying degree of signs from other components of the nervous system. A commonly accepted clinical classification (Harding, 1993) divides ADCAs into three different groups based on the presence or absence of associated symptoms such as brainstem signs or retinopathy. The presence of pyramidal and extrapyramidal symptoms and ophthalmoplegia makes the diagnosis of ADCA I, the presence of retinopathy points to ADCA II, and the absence of associated signs to ADCA III. Genetic linkage and molecular analyses revealed that ADCAs are genetically heterogeneous even within the various subtypes.

Defects in ATXN10 have been associated with Joubert syndrome.

Further reading

• Harding AE (1993). "Clinical features and classification of inherited ataxias.". Advances in Neurology 61: 1–14. PMID 8421960. 
• "[Spinocerebellar ataxia type 10 (SCA10): a disease caused by a novel pentanucleotide repeat expansion]". Rinsho Shinkeigaku 41 (12): 1120–2. 2002. PMID 12235814. 
• "Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia.". Neurology 51 (5): 1423–6. 1998. doi:10.1212/wnl.51.5.1423. PMID 9818872. 
• "The DNA sequence of human chromosome 22.". Nature 402 (6761): 489–95. 1999. doi:10.1038/990031. PMID 10591208. Bibcode: 1999Natur.402..489D. 
• "Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.". Nat. Genet. 26 (2): 191–4. 2000. doi:10.1038/79911. PMID 11017075. 
• "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.". Genome Res. 11 (3): 422–35. 2001. doi:10.1101/gr.GR1547R. PMID 11230166. 
• "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.". EMBO Rep. 1 (3): 287–92. 2001. doi:10.1093/embo-reports/kvd058. PMID 11256614. 
• "Spinocerebellar ataxia type 10 in the French population.". Ann. Neurol. 51 (3): 408–9. 2002. doi:10.1002/ana.10126. PMID 11891842. 
• "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M. 
• "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039. 
• "Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10.". Am. J. Hum. Genet. 74 (6): 1216–24. 2004. doi:10.1086/421526. PMID 15127363. 
• "A genome annotation-driven approach to cloning the human ORFeome.". Genome Biol. 5 (10): R84. 2005. doi:10.1186/gb-2004-5-10-r84. PMID 15461802. 
• "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334. 
• "Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier?". Am. J. Hum. Genet. 78 (1): 125–9. 2006. doi:10.1086/498654. PMID 16385455. 
• "Ataxin 10 induces neuritogenesis via interaction with G-protein beta2 subunit.". J. Neurosci. Res. 83 (7): 1170–8. 2006. doi:10.1002/jnr.20807. PMID 16498633. 
• "Large-scale mapping of human protein-protein interactions by mass spectrometry.". Mol. Syst. Biol. 3 (1): 89. 2007. doi:10.1038/msb4100134. PMID 17353931. 

External links

• GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 10
• Human ATXN10 genome location and ATXN10 gene details page in the UCSC Genome Browser.