RecName: Full=THAP domain-containing protein 1

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DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family. [Brain. 2022]
DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family.
Cheng F, Zheng W, Barbuti PA, Bonsi P, Liu C, Casadei N, Ponterio G, Meringolo M, Admard J, Dording CM, et al. Brain. 2022 Nov 21; 145(11):3968-3984.
A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding. [Hum Mol Genet. 2022]
A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding.
Yellajoshyula D, Rogers AE, Kim AJ, Kim S, Pappas SS, Dauer WT. Hum Mol Genet. 2022 Mar 31; 31(7):1096-1104.
Linking Penetrance and Transcription in DYT-THAP1: Insights From a Human iPSC-Derived Cortical Model. [Mov Disord. 2021]
Linking Penetrance and Transcription in DYT-THAP1: Insights From a Human iPSC-Derived Cortical Model.
Baumann H, Ott F, Weber J, Trilck-Winkler M, Münchau A, Zittel S, Kostić VS, Kaiser FJ, Klein C, Busch H, et al. Mov Disord. 2021 Jun; 36(6):1381-1391. Epub 2021 Feb 6.

RefSeq genomic sequence
See the genomic reference sequence for the THAP1 gene (NG_011837.2).
RefSeq protein isoforms
See 2 reference sequence protein isoforms for the THAP1 gene.

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Q9NVV9 [Domain Mapping of Disease Mut...]
Q9NVV9
Domain Mapping of Disease Mutations
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Protein