Structural highlights
Disease
PUS3_HUMAN Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome. The disease is caused by variants affecting the gene represented in this entry.
Function
PUS3_HUMAN Formation of pseudouridine at position 39 in the anticodon stem and loop of transfer RNAs.[1]
References
- ↑ Shaheen R, Han L, Faqeih E, Ewida N, Alobeid E, Phizicky EM, Alkuraya FS. A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition. Hum Genet. 2016 Jul;135(7):707-13. PMID:27055666 doi:10.1007/s00439-016-1665-7
