NameTreacher Collins syndrome (xX:Xm)
DescriptionInhibition 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 reactionxX:Xm
Found in RNArRNA
Modified Transcript18S rRNA (position C463)
Mapping Technology
Quantification techniques2'-O-Methyl RNA-DNA chimera directed RNase H cleavage.

Enzymes connected to this disease:

Acronym Full name Enzyme Role Organism
NOP56 NOP56 ribonucleoprotein Homo sapiens
TCOF1 treacle ribosome biogenesis factor 1 Homo sapiens


ID Title Authors Journal Details PubMed Id DOI
1122 The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNAmethylation. Gonzales B Hum Mol Genet [details] 15930015 ddi208

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