Interferon-induced helicase C domain-containing protein 1
The IFIH1 gene encodes a protein involved in innate immunity agains viruses by interferone 1 sinaling. Mutations cause autosomal dominant Aicardi-Goutieres syndrome 7 and Singleton-Merten syndrome 1,
Genetests:
Related Diseases:
References:
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Crow YJ et al. (2014) Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.
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Liddicoat BJ et al. (2015) RNA editing by ADAR1 prevents MDA5 sensing of endogenous dsRNA as nonself.
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Adang LA et al. (2018) Aicardi goutières syndrome is associated with pulmonary hypertension.
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Kang DC et al. (2002) mda-5: An interferon-inducible putative RNA helicase with double-stranded RNA-dependent ATPase activity and melanoma growth-suppressive properties.
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Kato H et al. (2006) Differential roles of MDA5 and RIG-I helicases in the recognition of RNA viruses.
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Colli ML et al. (2010) MDA5 and PTPN2, two candidate genes for type 1 diabetes, modify pancreatic beta-cell responses to the viral by-product double-stranded RNA.
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Ferreira RC et al. (2010) Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.
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Valverde I et al. (2010) Singleton-merten syndrome and impaired cardiac function.
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Robinson T et al. (2011) Autoimmune disease risk variant of IFIH1 is associated with increased sensitivity to IFN-α and serologic autoimmunity in lupus patients.
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Motz C et al. (2013) Paramyxovirus V proteins disrupt the fold of the RNA sensor MDA5 to inhibit antiviral signaling.
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Funabiki M et al. (2014) Autoimmune disorders associated with gain of function of the intracellular sensor MDA5.
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Rice GI et al. (2014) Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
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Oda H et al. (2014) Aicardi-Goutières syndrome is caused by IFIH1 mutations.
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Rutsch F et al. (2015) A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.
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Update: Aug. 14, 2020