interferon induced with helicase C domain 1
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The IFIH1 gene provides instructions for making the MDA5 protein, which plays an important role in innate immunity, the body's early, response to foreign invaders (pathogens) such as viruses and bacteria. In particular, the MDA5 protein recognizes a molecule called double-stranded RNA (a chemical cousin of DNA). Certain viruses, including rhinovirus (the virus that causes the common cold), respiratory syncytial virus (RSV), and the influenza (flu) virus, use RNA as their genetic material or produce RNA when they infect cells and copy (replicate) themselves. Another subset of viruses has DNA as their genetic material.
Normal function
The IFIH1 gene provides instructions for making the MDA5 protein, which plays an important role in innate immunity, the body's early, response to foreign invaders (pathogens) such as viruses and bacteria. In particular, the MDA5 protein recognizes a molecule called double-stranded RNA (a chemical cousin of DNA). Certain viruses, including rhinovirus (the virus that causes the common cold), respiratory syncytial virus (RSV), and the influenza (flu) virus, use RNA as their genetic material or produce RNA when they infect cells and copy (replicate) themselves. Another subset of viruses has DNA as their genetic material.
MDA5 proteins attach themselves to pieces of viral RNA inside the cell, forming a filament. This stimulates signals that turn on the production of immune system proteins called interferons. Interferons control the activity of genes that help block viruses from replicating themselves and stimulate the activity of certain immune system cells to fight infection. Interferons also help regulate inflammation, which is another part of the body's innate immune response.
Conditions referring to this gene or chromosome
Other names
IDDM19
interferon-induced helicase C domain-containing protein 1
MDA-5
MDA5
melanoma differentiation-associated gene 5
melanoma differentiation-associated protein 5
murabutide down-regulated protein
RIG-I-like receptor 2
RLR-2
RNA helicase-DEAD box protein 116
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Leitura adicional e referências
- interferon induced with helicase C domain 1; MedlinePlus, National Library of Medicine.
- Asgari S, Schlapbach LJ, Anchisi S, Hammer C, Bartha I, Junier T, Mottet-Osman G, Posfay-Barbe KM, Longchamp D, Stocker M, Cordey S, Kaiser L, Riedel T, Kenna T, Long D, Schibler A, Telenti A, Tapparel C, McLaren PJ, Garcin D, Fellay J. Severe viral respiratory infections in children with IFIH1 loss-of-function mutations. Proc Natl Acad Sci U S A. 2017 Aug 1;114(31):8342-8347. doi: 10.1073/pnas.1704259114. Epub 2017 Jul 17.
- Berke IC, Yu X, Modis Y, Egelman EH. MDA5 assembles into a polar helical filament on dsRNA. Proc Natl Acad Sci U S A. 2012 Nov 6;109(45):18437-41. doi: 10.1073/pnas.1212186109. Epub 2012 Oct 22.
- Bursztejn AC, Briggs TA, del Toro Duany Y, Anderson BH, O'Sullivan J, Williams SG, Bodemer C, Fraitag S, Gebhard F, Leheup B, Lemelle I, Oojageer A, Raffo E, Schmitt E, Rice GI, Hur S, Crow YJ. Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutieres and Singleton-Merten syndromes. Br J Dermatol. 2015 Dec;173(6):1505-13. doi: 10.1111/bjd.14073. Epub 2015 Oct 29.
- Lamborn IT, Jing H, Zhang Y, Drutman SB, Abbott JK, Munir S, Bade S, Murdock HM, Santos CP, Brock LG, Masutani E, Fordjour EY, McElwee JJ, Hughes JD, Nichols DP, Belkadi A, Oler AJ, Happel CS, Matthews HF, Abel L, Collins PL, Subbarao K, Gelfand EW, Ciancanelli MJ, Casanova JL, Su HC. Recurrent rhinovirus infections in a child with inherited MDA5 deficiency. J Exp Med. 2017 Jul 3;214(7):1949-1972. doi: 10.1084/jem.20161759. Epub 2017 Jun 12.
- Loo YM, Gale M Jr. Immune signaling by RIG-I-like receptors. Immunity. 2011 May 27;34(5):680-92. doi: 10.1016/j.immuni.2011.05.003.
- Looney BM, Xia CQ, Concannon P, Ostrov DA, Clare-Salzler MJ. Effects of type 1 diabetes-associated IFIH1 polymorphisms on MDA5 function and expression. Curr Diab Rep. 2015 Nov;15(11):96. doi: 10.1007/s11892-015-0656-8.
- Oda H, Nakagawa K, Abe J, Awaya T, Funabiki M, Hijikata A, Nishikomori R, Funatsuka M, Ohshima Y, Sugawara Y, Yasumi T, Kato H, Shirai T, Ohara O, Fujita T, Heike T. Aicardi-Goutieres syndrome is caused by IFIH1 mutations. Am J Hum Genet. 2014 Jul 3;95(1):121-5. doi: 10.1016/j.ajhg.2014.06.007.
- Rice GI, Del Toro Duany Y, Jenkinson EM, Forte GM, Anderson BH, Ariaudo G, Bader-Meunier B, Baildam EM, Battini R, Beresford MW, Casarano M, Chouchane M, Cimaz R, Collins AE, Cordeiro NJ, Dale RC, Davidson JE, De Waele L, Desguerre I, Faivre L, Fazzi E, Isidor B, Lagae L, Latchman AR, Lebon P, Li C, Livingston JH, Lourenco CM, Mancardi MM, Masurel-Paulet A, McInnes IB, Menezes MP, Mignot C, O'Sullivan J, Orcesi S, Picco PP, Riva E, Robinson RA, Rodriguez D, Salvatici E, Scott C, Szybowska M, Tolmie JL, Vanderver A, Vanhulle C, Vieira JP, Webb K, Whitney RN, Williams SG, Wolfe LA, Zuberi SM, Hur S, Crow YJ. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nat Genet. 2014 May;46(5):503-509. doi: 10.1038/ng.2933. Epub 2014 Mar 30.
- Rutsch F, MacDougall M, Lu C, Buers I, Mamaeva O, Nitschke Y, Rice GI, Erlandsen H, Kehl HG, Thiele H, Nurnberg P, Hohne W, Crow YJ, Feigenbaum A, Hennekam RC. A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. Am J Hum Genet. 2015 Feb 5;96(2):275-82. doi: 10.1016/j.ajhg.2014.12.014. Epub 2015 Jan 22.
- Van Eyck L, De Somer L, Pombal D, Bornschein S, Frans G, Humblet-Baron S, Moens L, de Zegher F, Bossuyt X, Wouters C, Liston A. Brief Report: IFIH1 Mutation Causes Systemic Lupus Erythematosus With Selective IgA Deficiency. Arthritis Rheumatol. 2015 Jun;67(6):1592-7. doi: 10.1002/art.39110.
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