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EFTUD2 is 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.
Gene Name: | elongation factor Tu GTP binding domain containing 2 |
Synonyms: | EFTUD2, Elongation factor 2, HSNU114, MFDM, KIAA0031, Snrp116, Snu114, SNU114 homolog, U5-116 kDa, U5-116KD |
Target Sequences: | NM_004247 NP_004238.3 Q15029 |
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