Summary:

NameIntellectual disability (U:Y)
DescriptionA significant reduction in post-transcriptional pseudouridine modification of tRNA in patient cells has occurred.
Related RNA reactionU:Y
Found in RNAtRNA
Modified TranscripttRNA-Phe
Mapping TechnologyNone
Quantification techniquesHPLC

Enzymes connected to this disease:

Acronym Full name Enzyme Role Organism
PUS3 tRNA pseudouridine(38/39) synthase None Homo sapiens
 

Publications:

ID Title Authors Journal Details PubMed Id DOI

Copyright © Genesilico - All rights reserved
If you have any advice or suggestions for corrections or improvements, please contact: Andrea Cappannini - lp.vog.bcmii@ininnappaca