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TRAF3 Interacting Protein 2

The TRAF3IP2 gene encodes a protein that is involved in cytokin signal transduction of NF-kappaB. Mutations cause autosomal recessive familial candidiasis 8 and a susceptibility to psoriasis 13.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Familial candidiasis 8
TRAF3IP2
Psoriasis susceptibility 13
TRAF3IP2

References:

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: Aug. 14, 2020
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