SCA THAP11

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.

Year

2023¹

Location in Gene

Exon 1

Gene Strand

Alleles

Ref. Motif

CAG

Pathogenic (ref.)

CAG

Pathogenic (gene)

AGC

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)

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