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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Weiterführende Lektüre und Referenzen
- interferon induced with helicase C domain 1; MedlinePlus, National Library of Medicine.
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- 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.
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- 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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26. Sept. 2024 | Neueste Version
1 Sept 2024 | Ursprünglich veröffentlicht
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