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.

Mechanism

GoF

Polyglutamine expansion leading to gain of function toxicity^1,4.

Detection

Year

2023¹

Location in Gene

Coding Exon 1

Gene Strand

Alleles

Ref. Motif

CAG

Ranges

Benign (ref.)

–

Benign (gene)

–

Pathogenic (ref.)

CAG

Pathogen. (gene)

CAG

Unknown (ref.)

–

Unknown (gene)

–

Interruption (ref.)

CAA

Interrup. (gene)

CAA

References

Direct supporting references for info on this page.

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:37148549

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:24677642

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:39651830

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:38467784

Additional 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)

Large-scale genetic profiling of hereditary ataxias in China: implications for a stepwise molecular diagnostic strategy.

Jin-Yang,Yu, Yi-Min,Sun, Yi,Dong, Jian-Jun,Wu, Chen-Hao,Zhu, Yi-Chu,Du, Yi-Xin,Zhang, Yue,Zhang, Sheng-Mei,Zou, Yin,Ma, Hai-Lin,Dong, Zhi-Ying,Wu

Translational neurodegeneration · 2026-09-29

pmid:42806408

Repeat expansions in Parkinson's disease and parkinsonism across ancestries: insights from a global genetic cohort.

Lara M,Lange, Catalina,Cerquera-Cleves, Ai Huey,Tan, Shen-Yang,Lim, Njideka U,Okubadejo, Chin-Hsien,Lin, Pin-Shiuan,Chen, Jung Hwan,Shin, Azlina,Ahmad-Annuar, Laurel A,Screven, Viorica,Chelban, Allison A,Dilliot, André,Fienemann, Kamalini Ghosh,Galvelis, Henry,Houlden, Hirotaka,Iwaki, Zane,Jaunmuktane, Patrick W,Cullinane, Thomas,Warner, Johanna,Junker, Yuliia,Kanana, Ignacio J Keller,Sarmiento, Christine,Klein, Pin-Jui,Kung, Hampton L,Leonard, Niccoló E,Mencacci, Mike A,Nalls, Raquel,Real, Samia Ben,Sassi, Joanne,Trinh, Dan,Vitale, Ana,Westenberger, Lesley Y,Wu, Andrew B,Singleton, Huw R,Morris, Katja,Lohmann, Cornelis,Blauwendraat, Peter,Heutink, Zih-Hua,Fang

medRxiv : the preprint server for health sciences · 2026-06-22

pmid:42396269

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:40886825

Diagnostic 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:40488180

SMARCA2 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

Locus SCA51 THAP11

Disease

Locus

Alleles

References

Additional Literature