Ubiquitin-specific protease 18
The USP18 gene encodes a protein that cleaves ubiquitin from ubiquitinated proteins. Mutations cause an accumulation of such conjugated proteins and the autosomal recessive disorder pseudo-TORCH syndrome 2 ensues.
Genetests:
Related Diseases:
References:
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Liu LQ et al. (1999) A novel ubiquitin-specific protease, UBP43, cloned from leukemia fusion protein AML1-ETO-expressing mice, functions in hematopoietic cell differentiation.
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Li XL et al. (2000) RNase-L-dependent destabilization of interferon-induced mRNAs. A role for the 2-5A system in attenuation of the interferon response.
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Schwer H et al. (2000) Cloning and characterization of a novel human ubiquitin-specific protease, a homologue of murine UBP43 (Usp18).
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Kang D et al. (2001) Cloning and characterization of human ubiquitin-processing protease-43 from terminally differentiated human melanoma cells using a rapid subtraction hybridization protocol RaSH.
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Knoblauch H et al. (2003) Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome).
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Duex JE et al. (2009) RNA interference screen identifies Usp18 as a regulator of epidermal growth factor receptor synthesis.
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Meuwissen ME et al. (2016) Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.
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Update: Aug. 14, 2020