Ubiquitin-spezifische Protease 18
Das USP18-Gen kodiert ein Enzym welches das Ubiquitin von unbiquitinierten Proteinen abtrennt. Bei Mutationen kommt es zu einer Akkumulation solcher Ubiquitin-konjugierter Proteine. Die dabei entstehende autosomal rezessive Erkrankung wird Pseudo-TORCH-Syndrom 2 bezeichnet.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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.
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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.
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3. |
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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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.
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5. |
Knoblauch H et al. (2003) Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome).
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6. |
Duex JE et al. (2009) RNA interference screen identifies Usp18 as a regulator of epidermal growth factor receptor synthesis.
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7. |
Meuwissen ME et al. (2016) Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.
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Update: 14. August 2020