Homo sapiens THAP domain containing 1 (THAP1), transcript variant 1, m - Nucleotide

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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.
Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin. [Am J Hum Genet. 2021]
Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin.
Domingo A, Yadav R, Shah S, Hendriks WT, Erdin S, Gao D, O'Keefe K, Currall B, Gusella JF, Sharma N, et al. Am J Hum Genet. 2021 Nov 4; 108(11):2145-2158. Epub 2021 Oct 20.

RefSeq protein product
See the reference protein sequence for THAP domain-containing protein 1 isoform 1 (NP_060575.1).

Protein
Protein sequence from Nucleotide coding region
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Nucleotide