TTBK2 explained

Tau tubulin kinase 2 is a protein in humans that is encoded by the TTBK2 gene.^[1] 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.^[2]

Further reading

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

External links

• GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 11

Notes and References

1. Web site: Entrez Gene: Tau tubulin kinase 2 . 2012-06-11 .
2. 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 . Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11 . Nature Genetics . 39 . 12 . 1434–1436 . December 2007 . 18037885 . 10.1038/ng.2007.43 . 20774216 .