116 kDa U5 small nuclear ribonucleoprotein component (EFTUD2)

116 kDa U5 small nuclear ribonucleoprotein component (EFTUD2) is a highly conserved GTPase that forms a critical subunit of both the major and minor spliceosome complexes, notably the U5 small nuclear ribonucleoprotein (snRNP) and the U4/U6.U5 tri-snRNP, which are responsible for the removal of introns from pre-mRNA during gene expression[4][5][3][2]. EFTUD2 contains a GTP-binding domain essential for spliceosome assembly and function, facilitating conformational transitions required for splicing[1][4][5]. It plays a key role in the processing of precursor mRNAs into mature mRNAs by participating in the recognition and precise excision of introns[3][5]. Variants in EFTUD2 impair mRNA splicing, leading to increased splicing errors and abnormal apoptosis in neural crest and progenitor cells, which underlies several developmental disorders, especially mandibulofacial dysostosis with microcephaly (MFDM), featuring craniofacial malformations, intellectual disability, and other systemic anomalies[1][3][5]. No drugs specifically target EFTUD2, and it is primarily of interest in genetic and molecular pathology rather than as a direct therapeutic drug target.

Other names

116 kDa U5 small nuclear ribonucleoprotein componentEFTUD2KIAA0031SNRP116hSNU114U5-116 kDaU5-116KDSnrp116Snu114SNRNP116elongation factor Tu GTP-binding domain-containing protein 2SNU114 homologU5 snRNP-specific proteinMFDGAMFDM