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TTBK2
TTBK2
Identifiers
Symbol
TTBK2
Alt. symbols
SCA11
Entrez
146057
HUGO
19141
OMIM
611695
RefSeq
NM_173500
Other data
Locus
Chr. 15
q15.2
TTBK2
is a gene that contains mutations associated with
spinocerebellar ataxia
.
[
1
]
^
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. (December 2007). "Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11".
Nature Genetics
39
(12): 1434–1436.
doi
:
10.1038/ng.2007.43
.
PMID
18037885
.
External Links
GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 11