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TTBK2

{{Short description|Protein-coding gene in the species Homo sapiens}}

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Tau tubulin kinase 2 is a protein in humans that is encoded by the TTBK2 gene.{{cite web | title = Entrez Gene: Tau tubulin kinase 2 | url = https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=146057 | access-date = 2012-06-11 }}

This gene encodes a serine-threonine kinase that putatively phosphorylates tau and tubulin proteins. Mutations in this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and brainstem.{{cite journal | vauthors = Houlden H, Johnson J, Gardner-Thorpe C, Lashley T, Hernandez D, Worth P, Singleton AB, Hilton DA, Holton J, Revesz T, Davis MB, Giunti P, Wood NW | title = Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11 | journal = Nature Genetics | volume = 39 | issue = 12 | pages = 1434–1436 | date = December 2007 | pmid = 18037885 | doi = 10.1038/ng.2007.43 | s2cid = 20774216 }}

References

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Further reading

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  • {{cite journal | vauthors = Edener U, Kurth I, Meiner A, Hoffmann F, Hübner CA, Bernard V, Gillessen-Kaesbach G, Zühlke C | title = Missense exchanges in the TTBK2 gene mutated in SCA11 | journal = Journal of Neurology | volume = 256 | issue = 11 | pages = 1856–1859 | date = November 2009 | pmid = 19533200 | doi = 10.1007/s00415-009-5209-0 | s2cid = 10343192 }}
  • {{cite journal | vauthors = Dgany O, Avidan N, Delaunay J, Krasnov T, Shalmon L, Shalev H, Eidelitz-Markus T, Kapelushnik J, Cattan D, Pariente A, Tulliez M, Crétien A, Schischmanoff PO, Iolascon A, Fibach E, Koren A, Rössler J, Le Merrer M, Yaniv I, Zaizov R, Ben-Asher E, Olender T, Lancet D, Beckmann JS, Tamary H | title = Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1 | journal = American Journal of Human Genetics | volume = 71 | issue = 6 | pages = 1467–1474 | date = December 2002 | pmid = 12434312 | pmc = 378595 | doi = 10.1086/344781 }}
  • {{cite journal | vauthors = Worth PF, Giunti P, Gardner-Thorpe C, Dixon PH, Davis MB, Wood NW | title = Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3 | journal = American Journal of Human Genetics | volume = 65 | issue = 2 | pages = 420–426 | date = August 1999 | pmid = 10417284 | pmc = 1377940 | doi = 10.1086/302495 }}
  • {{cite journal | vauthors = Kitano-Takahashi M, Morita H, Kondo S, Tomizawa K, Kato R, Tanio M, Shirota Y, Takahashi H, Sugio S, Kohno T | title = Expression, purification and crystallization of a human tau-tubulin kinase 2 that phosphorylates tau protein | journal = Acta Crystallographica. Section F, Structural Biology and Crystallization Communications | volume = 63 | issue = Pt 7 | pages = 602–604 | date = July 2007 | pmid = 17620722 | pmc = 2335129 | doi = 10.1107/S1744309107028783 }}
  • {{cite journal | vauthors = Xu Q, Li X, Wang J, Yi J, Lei L, Shen L, Jiang H, Xia K, Pan Q, Tang B | title = Spinocerebellar ataxia type 11 in the Chinese Han population | journal = Neurological Sciences | volume = 31 | issue = 1 | pages = 107–109 | date = February 2010 | pmid = 19768375 | doi = 10.1007/s10072-009-0129-4 | s2cid = 972027 }}
  • {{cite journal | vauthors = Houlden H, Johnson J, Gardner-Thorpe C, Lashley T, Hernandez D, Worth P, Singleton AB, Hilton DA, Holton J, Revesz T, Davis MB, Giunti P, Wood NW | title = Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11 | journal = Nature Genetics | volume = 39 | issue = 12 | pages = 1434–1436 | date = December 2007 | pmid = 18037885 | doi = 10.1038/ng.2007.43 | s2cid = 20774216 }}
  • {{cite book | vauthors = Chen Z, Puzriakova A, Houlden H | chapter = Spinocerebellar Ataxia Type 11 | orig-date = July 2008 | date = October 2019 | veditors = Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A | title = GeneReviews [Internet] | location = Seattle (WA) | publisher = University of Washington, Seattle | pmid = 20301723 }}
  • {{cite journal | vauthors = Brusco A, Gellera C, Cagnoli C, Saluto A, Castucci A, Michielotto C, Fetoni V, Mariotti C, Migone N, Di Donato S, Taroni F | title = Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families | journal = Archives of Neurology | volume = 61 | issue = 5 | pages = 727–733 | date = May 2004 | pmid = 15148151 | doi = 10.1001/archneur.61.5.727 | doi-access = }}
  • {{cite journal | vauthors = Crockett DK, Fillmore GC, Elenitoba-Johnson KS, Lim MS | title = Analysis of phosphatase and tensin homolog tumor suppressor interacting proteins by in vitro and in silico proteomics | journal = Proteomics | volume = 5 | issue = 5 | pages = 1250–1262 | date = April 2005 | pmid = 15717329 | doi = 10.1002/pmic.200401046 | s2cid = 45130615 }}

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External links

  • [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sca11 GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 11]

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