Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Toll/interleukin-1 receptor domain-containing adapter protein

The TIRAP gene encodes a receptor for various pathogens. Mutations cause immunodeficiencies in particular a susceptibility to pneumococcal infections.

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:

Susceptibility to bacteremia 1
TIRAP
Invasive pneumococcal disease 3
TIRAP
Susceptibility to mycobacterial diseases
TIRAP
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
IKBKG

References:

1.

Horng T et al. (2001) TIRAP: an adapter molecule in the Toll signaling pathway.

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2.

Fitzgerald KA et al. (2001) Mal (MyD88-adapter-like) is required for Toll-like receptor-4 signal transduction.

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3.

Bannerman DD et al. (2002) TIRAP mediates endotoxin-induced NF-kappaB activation and apoptosis in endothelial cells.

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4.

Yamamoto M et al. (2002) Essential role for TIRAP in activation of the signalling cascade shared by TLR2 and TLR4.

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5.

Horng T et al. (2002) The adaptor molecule TIRAP provides signalling specificity for Toll-like receptors.

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6.

Kagan JC et al. (2006) Phosphoinositide-mediated adaptor recruitment controls Toll-like receptor signaling.

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7.

Hawn TR et al. (2006) A polymorphism in Toll-interleukin 1 receptor domain containing adaptor protein is associated with susceptibility to meningeal tuberculosis.

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8.

Khor CC et al. (2007) A Mal functional variant is associated with protection against invasive pneumococcal disease, bacteremia, malaria and tuberculosis.

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9.

Miggin SM et al. (2007) NF-kappaB activation by the Toll-IL-1 receptor domain protein MyD88 adapter-like is regulated by caspase-1.

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10.

Nejentsev S et al. (2008) Analysis of association of the TIRAP (MAL) S180L variant and tuberculosis in three populations.

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11.

George J et al. (2010) MyD88 adaptor-like D96N is a naturally occurring loss-of-function variant of TIRAP.

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12.

Dowling JK et al. (2019) The Single Nucleotide Polymorphism Mal-D96N Mice Provide New Insights into Functionality of Mal in TLR Immune Responses.

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Update: Aug. 14, 2020
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