Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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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.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Pseudo-TORCH syndrome 2



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
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