ATXN10

Ataxin 10
Identifiers
Symbols	ATXN10 ; E46L; FLJ37990; SCA10
External IDs	Template:OMIM5 Template:MGI HomoloGene: 40858
Gene ontology Molecular function Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Ataxin 10, also known as ATXN10, is a human gene.

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 3 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.[supplied by OMIM]

Further reading

• Harding AE (1993). "Clinical features and classification of inherited ataxias". Advances in neurology. 61: 1–14. PMID 8421960.
• Ashizawa T, Matsuura T (2002). "[Spinocerebellar ataxia type 10 (SCA10): a disease caused by a novel pentanucleotide repeat expansion]". Rinsho Shinkeigaku. 41 (12): 1120–2. PMID 12235814.
• Grewal RP, Tayag E, Figueroa KP; et al. (1998). "Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia". Neurology. 51 (5): 1423–6. PMID 9818872.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Zu L, Figueroa KP, Grewal R, Pulst SM (1999). "Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22". Am. J. Hum. Genet. 64 (2): 594–9. PMID 9973298.CS1 maint: Multiple names: authors list (link)
• Dunham I, Shimizu N, Roe BA; et al. (1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–95. doi:10.1038/990031. PMID 10591208.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Matsuura T, Yamagata T, Burgess DL; et al. (2000). "Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10". Nat. Genet. 26 (2): 191–4. doi:10.1038/79911. PMID 11017075.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wiemann S, Weil B, Wellenreuther R; et al. (2001). "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. doi:10.1101/gr.154701. PMID 11230166.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Simpson JC, Wellenreuther R, Poustka A; et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMID 11256614.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Fujigasaki H, Tardieu S, Camuzat A; et al. (2002). "Spinocerebellar ataxia type 10 in the French population". Ann. Neurol. 51 (3): 408–9. PMID 11891842.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Matsuura T, Fang P, Lin X; et al. (2004). "Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10". Am. J. Hum. Genet. 74 (6): 1216–24. doi:10.1086/421526. PMID 15127363.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Collins JE, Wright CL, Edwards CA; et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMID 15461802.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Matsuura T, Fang P, Pearson CE; et al. (2006). "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. doi:10.1086/498654. PMID 16385455.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Waragai M, Nagamitsu S, Xu W; et al. (2006). "Ataxin 10 induces neuritogenesis via interaction with G-protein beta2 subunit". J. Neurosci. Res. 83 (7): 1170–8. doi:10.1002/jnr.20807. PMID 16498633.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ewing RM, Chu P, Elisma F; et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3: 89. doi:10.1038/msb4100134. PMID 17353931.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)