Not yet tested in other applications.
Optimal dilutions/concentrations should be determined by the end user.
FunctionComponent of the U5 snRNP complex required for pre-mRNA splicing. Binds GTP.
Involvement in diseaseDefects in EFTUD2 are the cause of mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536]. A rare syndrome characterized by progressive microcephaly, midface and malar hypoplasia, micrognathia, microtia, dysplastic ears, preauricular skin tags, significant developmental delay, and speech delay. Many patients have major sequelae, including choanal atresia that results in respiratory difficulties, conductive hearing loss, and cleft palate.
Sequence similaritiesBelongs to the GTP-binding elongation factor family. EF-G/EF-2 subfamily.
Post-translational modificationsPhosphorylated upon DNA damage, probably by ATM or ATR.