| Name | Treacher Collins syndrome (N:Nm) |
| Description | Inhibition of the production of properly modified leading to impaired proliferation and differentiation of specific embryonic cells. Downregulated expression of treacle resulted in decrease 2'-O-Me of 18S pre-rRNA |
| Related RNA reaction | N:Nm |
| Found in RNA | rRNA |
| Modified Transcript | 18S rRNA (position C463) |
| Mapping Technology | |
| Quantification techniques | 2'-O-Methyl RNA-DNA chimera directed RNase H cleavage. |
| Acronym | Full name | Enzyme Role | Organism | Comment |
|---|---|---|---|---|
| NOP56 | NOP56 ribonucleoprotein | Homo sapiens | ||
| TCOF1 | treacle ribosome biogenesis factor 1 | Homo sapiens |
| ID | Title | Authors | Journal | Details | ||
|---|---|---|---|---|---|---|
| 1122 | The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNAmethylation. | Gonzales B, Henning D, So RB, Dixon J, Dixon MJ, Valdez BC | Hum Mol Genet | [details] | 15930015 | ddi208 |