Full name: interferon induced with helicase C domain 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: AGS7; Hlcd; IDDM19; IMD95; MDA-5; MDA5; RLR-2; SGMRT1

Summary: IFIH1 encodes MDA5 which is an intracellular sensor of viral RNA that triggers the innate immune response. Sensing RNA length and secondary structure, MDA5 binds dsRNA oligonucleotides with a modified DExD/H-box helicase core and a C-terminal domain, thus leading to a proinflammatory response that includes interferons. It has been shown that Coronaviruses (CoVs) as well as various other virus families, are capable of evading the MDA5-dependent interferon response, thus impeding the activation of the innate immune response to infection. MDA5 has also been shown to play an important role in enhancing natural killer cell function in malaria infection. In addition to its protective role in antiviral responses, MDA5 has been implicated in autoimmune and autoinflammatory diseases such as type 1 diabetes, systemic lupus erythematosus, and Aicardi-Goutieres syndrome[provided by RefSeq, Jul 2020]

Expression: Ubiquitous expression in spleen (RPKM 10.9), appendix (RPKM 9.9) and 25 other tissues

Gene size: 51611bp

Exon count: 17