NCIt related terms : CADM-140 Autoantigen; Melanoma Differentiation-Associated Protein 5; MDA5; Interferon Induced With Helicase C Domain 1;
NCIt definition : Human IFIH1 wild-type allele is located in the vicinity of 2q24 and is approximately
52 kb in length. This allele, which encodes interferon-induced helicase C domain-containing
protein 1, plays a role in the induction of antiviral responses. Mutation of the gene
is associated with Aicardi-Goutieres syndrome 7. Variation in the gene is associated
with type 1 diabetes, Graves disease, and systemic lupus erythematosus.;
Alternative definition : CDISC: An antigen encoded by the IFIH1 gene and is involved in the induction of antiviral
responses. It can be considered as an autoantigen and is commonly associated with
autoimmune dermatomyositis and interstitial lung disease.;
NCIt note : HGNC and Ensembl report that the IFIH1 gene is located in the vicinity of 2q24.2.;