RecName: Full=Probable E3 ubiquitin-protein ligase IRF2BPL; AltName: F - Protein

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Genetic analysis of IRF2BPL in a Taiwanese dystonia cohort: The genotype and phenotype correlation. [Ann Clin Transl Neurol. 2024]
Genetic analysis of IRF2BPL in a Taiwanese dystonia cohort: The genotype and phenotype correlation.
Chen PS, Chen YF, Chiu JY, Wu MC, Tai CH, Chang YY, Lan MY, Lee NC, Lin CH. Ann Clin Transl Neurol. 2024 Jun; 11(6):1557-1566. Epub 2024 Apr 22.
IRF2BPL as a novel causative gene for progressive myoclonus epilepsy. [Epilepsia. 2023]
IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.
Gardella E, Michelucci R, Christensen HM, Fenger CD, Reale C, Riguzzi P, Pasini E, Albini-Riccioli L, Papa V, Foschini MP, et al. Epilepsia. 2023 Aug; 64(8):e170-e176. Epub 2023 Jun 8.
Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegeneration. [Parkinsonism Relat Disord. 2022]
Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegeneration.
Antonelli F, Grieco G, Cavallieri F, Casella A, Valente EM. Parkinsonism Relat Disord. 2022 Jan; 94:22-24. Epub 2021 Nov 14.

RefSeq protein
See the reference protein sequence for probable E3 ubiquitin-protein ligase IRF2BPL (NP_078772.1).

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Q9H1B7 [Domain Mapping of Disease Mut...]
Q9H1B7
Domain Mapping of Disease Mutations
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reagents [ExactAntigen/Labome]
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ExactAntigen/Labome

RecName: Full=Probable E3 ubiquitin-protein ligase IRF2BPL; AltName: Full=Enhanc...
RecName: Full=Probable E3 ubiquitin-protein ligase IRF2BPL; AltName: Full=Enhanced at puberty protein 1; AltName: Full=Interferon regulatory factor 2-binding protein-like
gi|34395562|sp|Q9H1B7.1|I2BPL_HUMAN

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