Literature associating EFTUD2 and Treacher Collins syndrome
Elongation factor Tu GTP-binding domain-containing protein 2; Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex required for pre-mRNA splicing. Binds GTP; Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-G/EF-2 subfamily.
Synonyms: EFTUD2, EFTUD2p, hEFTUD2, B3KX19, EFTUD2-002 ...