| Name | Aicardi-Goutières syndrome (A:I) |
| Description | ADAR1 acts as a suppressor of type I interferon signaling and may have a role in the cytoplasmic accumulation of dsRNA originating from genomic repetitive elements. |
| Related RNA reaction | A:I |
| Found in RNA | mRNA |
| Modified Transcript | None |
| Mapping Technology | Sanger and exome sequencing |
| Quantification techniques | RT-PCR |
| Acronym | Full name | Enzyme Role | Organism | Comment |
|---|---|---|---|---|
| ADARB1 | Double-stranded RNA-specific editase 1 | None | Homo sapiens |
| ID | Title | Authors | Journal | Details | ||
|---|---|---|---|---|---|---|
| 963 | Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. | Gillian I Rice | Nat Genet | [details] | 23001123 | 10.1038/ng.2414 |