TRAF3-interagierendes Protein 2
Das TRAF3IP2-Gen kodiert ein Protein, welches in der Zytokin-Signaltransduktion von NF-kappaB beteiligt ist. Mutationen sind für die autosomal rezessive familiäre Candidose 8 und die Anfälligkeit gegenüber Psoriasis 13 verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Morelli C et al. (2000) Cloning and characterization of two overlapping genes in a subregion at 6q21 involved in replicative senescence and schizophrenia.
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2. |
Li X et al. (2000) Act1, an NF-kappa B-activating protein.
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3. |
Leonardi A et al. (2000) CIKS, a connection to Ikappa B kinase and stress-activated protein kinase.
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4. |
Pacifico F et al. (2003) Promoter identification of CIKS, a novel NF-kappaB activating gene, and regulation of its expression.
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5. |
Qian Y et al. (2007) The adaptor Act1 is required for interleukin 17-dependent signaling associated with autoimmune and inflammatory disease.
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6. |
Matsushima Y et al. (2010) An atopic dermatitis-like skin disease with hyper-IgE-emia develops in mice carrying a spontaneous recessive point mutation in the Traf3ip2 (Act1/CIKS) gene.
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7. |
Hüffmeier U et al. (2010) Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.
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8. |
Ellinghaus E et al. (2010) Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2.
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9. |
Sønder SU et al. (2012) CIKS/Act1-mediated signaling by IL-17 cytokines in context: implications for how a CIKS gene variant may predispose to psoriasis.
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10. |
Zhang B et al. (2013) Crystal structure of IL-17 receptor B SEFIR domain.
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11. |
Boisson B et al. (2013) An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis.
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Update: 14. August 2020