靶标:
EFTUD2
产品别名:
MFDGA; MFDM; SNRNP116; Snrp116; Snu114; U5-116KD; EFTUD2; elongation factor Tu GTP binding domain containing 2; elongation factor Tu GTP binding domain containing 2; 116 kDa U5 small nuclear ribonucleoprotein component; SNU114 homolog; U5 snRNP-specific protein, 116 kDa; elongation factor Tu GTP-binding domain-containing protein 2; hSNU114; 延伸因子结合蛋白EFTUD2;
背景信息:
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. [provided by RefSeq, Apr 2012],