Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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:

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
USP18

References:

1.

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.

external link
2.

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.

external link
3.

Schwer H et al. (2000) Cloning and characterization of a novel human ubiquitin-specific protease, a homologue of murine UBP43 (Usp18).

external link
4.

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.

external link
5.

Knoblauch H et al. (2003) Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome).

external link
6.

Duex JE et al. (2009) RNA interference screen identifies Usp18 as a regulator of epidermal growth factor receptor synthesis.

external link
7.

Meuwissen ME et al. (2016) Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.

external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues