Locus SCA THAP11
Disease ID
SCA51
Gene ID
THAP11
Updated
Jun 15, 2026
v2.22.0
v2.22.0
Other gene loci
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Bioinformatical Links
Disease
Locus
Details Expansion (45-100 repeats) found in affected individuals from 2 families and not in 500 controls (benign range: 20-38 repeats)1 . Longer alleles were associated with earlier age of onset. For example, an individual with 100 repeats had age of onset at 4 years. CAA interruptions can reduce toxicity1,1 .
Detection
Alleles
Ref. Motif Reference motif, reference orientation
CAG
Ranges
Benign (ref.) Benign motif, reference orientation
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Benign (gene) Benign motif, gene orientation
–
Pathogenic (ref.) Pathogenic motif, reference orientation
CAG
Pathogenic (gene) Pathogenic motif, gene orientation
AGC
Unknown (ref.) Unknown motif, reference orientation
–
Unknown (gene) Unknown motif, gene orientation
–
Interruption (ref.) Interruption motif, reference orientation
CAA
Interruption (gene) Interruption motif, gene orientation
AAC
References
Direct supporting references for info on this page.
1
CAG Repeat Expansion in THAP11 Is Associated with a Novel Spinocerebellar Ataxia.
Dandan,Tan, Cuijie,Wei, Zhao,Chen, Yu,Huang, Jianwen,Deng, Jingjing,Li, Yidan,Liu, Xinhua,Bao, Jin,Xu, Zhengmao,Hu, Suxia,Wang, Yanbin,Fan, Yizheng,Jiang, Ye,Wu, Yuan,Wu, Shuang,Wang, Panyan,Liu, Yuehua,Zhang, Zhixian,Yang, Yuwu,Jiang, Hong,Zhang, Daojun,Hong, Nanbert,Zhong, Hong,Jiang, Hui,Xiong
Movement disorders : official journal of the Movement Disorder Society · 2023-05-06
pmid:371485492
Expansion of the polyQ repeats in THAP11 forms intranuclear aggregation and causes cell G0/G1 arrest.
Rong-Hua,Yin, Yang,Li, Fan,Yang, Yi-Qun,Zhan, Miao,Yu, Chang-Hui,Ge, Wang-Xiang,Xu, Liu-Jun,Tang, Xiao-Hui,Wang, Biao,Chen, Yang,Yang, Jian-Jie,Li, Chang-Yan,Li, Xiao-Ming,Yang
Cell biology international · 2014-02-20
pmid:246776423
A Population-Wide Exploration of the THAP11 CAG Repeat Size and Structure in the 100,000 Genomes Project and UK Biobank.
Chris,Clarkson, Zhongbo,Chen, Clarissa,Rocca, Bharati,Jadhav, Kristina,Ibañez, Mina,Ryten, Andrew J,Sharp, Henry,Houlden, Arianna,Tucci
Movement disorders : official journal of the Movement Disorder Society · 2024-12-09
pmid:396518304
Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.
Indhu-Shree,Rajan-Babu, Egor,Dolzhenko, Michael A,Eberle, Jan M,Friedman
Nature reviews. Genetics · 2024-03-11
pmid:38467784Additional Literature
Additional literature related to this locus.
Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem
repeats, and disease, in medline format)
Rapamycin alleviates neurodegeneration in a Drosophila model of spinocerebellar ataxia type 51.
Cuijie,Wei, Taoyun,Ji, Jin,Xu, Yilei,Zheng, Fuze,Zheng, Suxia,Wang, Chao,Gao, Yalan,Wan, Zhenyu,Li, Jianwen,Deng, Hui,Xiong
Journal of genetics and genomics = Yi chuan xue bao · 2025-08-29
pmid:40886825Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia.
Wai Yan,Yau, Roisin,Sullivan, Emer,O'Connor, David,Pellerin, Michael H,Parkinson, Paola,Giunti, Marie-Josée,Dicaire, Matt C,Danzi, Stephan,Züchner, Bernard,Brais, Nicholas W,Wood, Henry,Houlden, Jana,Vandrovcova
Brain communications · 2025-05-17
pmid:40488180SMARCA2 and THAP11: potential candidates for polyglutamine disorders as evidenced from polymorphism and protein-folding simulation studies.
Neeraj,Pandey, Uma,Mittal, Achal K,Srivastava, Mitali,Mukerji
Journal of human genetics · 2004-09-10
pmid:15368101