Ubiquitin-artiges Protein ISG15
Das ISG15-Gen kodiert ein ubiquitin-artiges intrazelluläres Protein, welches durch Interferon-apha/beta induziert und ist für die optimale antimykobakterielle Immunität notwendig. Mutationen bewirken eine autosomal rezessive Anfälligkeit gegenüber mykobakteriellen Infektionen.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Clauss IM et al. (1990) Chromosomal localization of two human genes inducible by interferons, double-stranded RNA, and viruses.
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2. |
Meraro D et al. (2002) IFN-stimulated gene 15 is synergistically activated through interactions between the myelocyte/lymphocyte-specific transcription factors, PU.1, IFN regulatory factor-8/IFN consensus sequence binding protein, and IFN regulatory factor-4: characterization of a new subtype of IFN-stimulated response element.
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3. |
Zhao C et al. (2005) Human ISG15 conjugation targets both IFN-induced and constitutively expressed proteins functioning in diverse cellular pathways.
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4. |
Okumura A et al. (2006) Innate antiviral response targets HIV-1 release by the induction of ubiquitin-like protein ISG15.
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5. |
Wong JJ et al. (2006) HERC5 is an IFN-induced HECT-type E3 protein ligase that mediates type I IFN-induced ISGylation of protein targets.
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6. |
Okumura A et al. (2008) ISG15 inhibits Ebola VP40 VLP budding in an L-domain-dependent manner by blocking Nedd4 ligase activity.
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7. |
Salajegheh M et al. (2010) Interferon-stimulated gene 15 (ISG15) conjugates proteins in dermatomyositis muscle with perifascicular atrophy.
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8. |
Bogunovic D et al. (2012) Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency.
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9. |
Zhang X et al. (2015) Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation.
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Update: 14. August 2020