Aliases for CTU2 Gene
External Ids for CTU2 Gene
Previous HGNC Symbols for CTU2 Gene
Previous GeneCards Identifiers for CTU2 Gene
This gene encodes a protein which is involved in the post-transcriptional modification of transfer RNAs (tRNAs). The encoded protein plays a role in thiolation of uridine residue present at the wobble position in a subset of tRNAs, resulting in enhanced codon reading accuracy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
GeneCards Summary for CTU2 Gene
CTU2 (Cytosolic Thiouridylase Subunit 2) is a Protein Coding gene. Diseases associated with CTU2 include Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome and Peroneal Neuropathy. Among its related pathways are tRNA processing and Sulfur relay system. Gene Ontology (GO) annotations related to this gene include tRNA binding and nucleotidyltransferase activity.
UniProtKB/Swiss-Prot Summary for CTU2 Gene
Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of tRNA(Lys), tRNA(Glu) and tRNA(Gln). May act by forming a heterodimer with CTU1/ATPBD3 that ligates sulfur from thiocarboxylated URM1 onto the uridine of tRNAs at wobble position.