| Name | Dyskeratosis Congenita (N:Nm) |
| Description | 2′-O-Me-regulated translation is important for cellular growth, differentiation, and hematopoietic stem cell maintenance. Aberrant 2'O-Me is induced by mutations in NPM1 observed in patients with dyskeratosis congenita. |
| Related RNA reaction | N:Nm |
| Found in RNA | rRNA |
| Modified Transcript | 28S rRNA (1327, 3764, 3866, 3904, 4198) |
| Mapping Technology | None |
| Quantification techniques | RTL-P |
| Acronym | Full name | Enzyme Role | Organism | Comment |
|---|---|---|---|---|
| NPM1 | nucleophosmin 1 | None | Homo sapiens |
| ID | Title | Authors | Journal | Details | ||
|---|---|---|---|---|---|---|
| 1011 | Germline NPM1 mutations lead to altered rRNA 2'-O-methylation and cause dyskeratosis congenita. | Daphna Nachmani | Nat Genet | [details] | 31570891 | 10.1038/s41588-019-0502-z |