This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene.
Immunogen Information
Immunogen
Fusion protein of human EFTUD2
Swissprot
Q15029
Synonyms
116 kDa116 kDa U5 small nuclear ribonucleoprotein componentEFTUD2Elongation factor Tu GTP binding domain containing 2Elongation factor Tu GTP-binding domain-containing protein 2hSNU114MFDGAMFDMSNRNP116Snrp116Snu114SNU114 homologU5 116KDU5 sma