| Name | Intellectual disability and progressive microcephaly (U:Y) |
| Description | PUS7 mutations result in decreased levels of Ψ13 modifications in tRNAs |
| Related RNA reaction | U:Y |
| Found in RNA | tRNA |
| Modified Transcript | tRNA-Val |
| Mapping Technology | HPLC, Primer extention |
| Quantification techniques | Primer extention |
| Acronym | Full name | Enzyme Role | Organism | Comment |
|---|---|---|---|---|
| PUS7 | Pseudouridylate synthase 7 homolog | None | Homo sapiens |
| ID | Title | Authors | Journal | Details | ||
|---|---|---|---|---|---|---|
| 1058 | PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly. | Ranad Shaheen | Hum Genet | [details] | 30778726 | 10.1007/s00439-019-01980-3 |