| Gene Symbol | IFIH1 |
| Entrez Gene ID | 64135 |
| Full Name | interferon induced with helicase C domain 1 |
| Synonyms | AGS7,Hlcd,IDDM19,MDA-5,MDA5,RLR-2,SGMRT1 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein that is upregulated in response to treatment with beta-interferon and a protein kinase C-activating compound, mezerein. Irreversible reprogramming of melanomas can be achieved by treatment with both these agents; treatment with either agent alone only achieves reversible differentiation. Genetic variation in this gene is associated with diabetes mellitus insulin-dependent type 19. [provided by RefSeq, Jul 2012]. |
| Disorder MIM: | |
| Disorder Html: | Aicardi-Goutieres syndrome 7, 615846 (3); Singleton-Merten syndrome 1, 182250 (3) |
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