NameIntellectual disability (U:Y)
DescriptionVariants in PUS7 cause the loss of function on pseudouridylation of mRNAs and tRNAs that leads intellectual disabilities.
Related RNA reactionU:Y
Found in RNAtRNA
Modified TranscripttRNA-Glu
Mapping TechnologyΨ-seq
Quantification techniquesRT-PCR, Primer extention

Enzymes connected to this disease:

Acronym Full name Enzyme Role Organism
PUS7 pseudouridine synthase 7 Homo sapiens


ID Title Authors Journal Details PubMed Id DOI
1055 Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly,Short Stature, and Aggressive Behavior. de Brouwer APM Am J Hum Genet [details] 30526862 S0002-9297(18)30402-6

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