| Name | Dubowitz-like Syndrome (C:m5C) |
| Description | In patient cells, a functional NSUN2 protein is lacking. NSUN2-depletion causes growth retardation, mild microcephaly, and learning disabilities. |
| Related RNA reaction | C:m5C |
| Found in RNA | tRNA |
| Modified Transcript | aspartate tRNA |
| Mapping Technology | Whole-exome sequencing |
| Quantification techniques | qRT-PCR |
| Acronym | Full name | Enzyme Role | Organism |
|---|---|---|---|
| NSUN2 | NOP2/Sun RNA methyltransferase 2 | None | Homo sapiens |
| ID | Title | Authors | Journal | Details | ||
|---|---|---|---|---|---|---|
| 1010 | Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome. | Fernando Jose Martinez | J Med Genet | [details] | 22577224 | 10.1136/jmedgenet-2011-100686 |