Aliases for PUS3 Gene
External Ids for PUS3 Gene
Previous GeneCards Identifiers for PUS3 Gene
The protein encoded by this gene catalyzes the formation of tRNA pseudouridine from tRNA uridine at position 39 in the anticodon stem and loop of transfer RNAs. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
GeneCards Summary for PUS3 Gene
PUS3 (Pseudouridine Synthase 3) is a Protein Coding gene. Diseases associated with PUS3 include Mental Retardation, Autosomal Recessive 55 and Syndrome With A Dandy-Walker Malformation As Major Feature. Among its related pathways are Gene Expression and tRNA processing. Gene Ontology (GO) annotations related to this gene include RNA binding and pseudouridine synthase activity. An important paralog of this gene is PUS1.
UniProtKB/Swiss-Prot Summary for PUS3 Gene
Formation of pseudouridine at position 39 in the anticodon stem and loop of transfer RNAs.