Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Immundefekt 38
ISG15

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: 17. Oktober 2019