Recombinant Human 116 kDa U5 small nuclear ribonucleoprotein component (EFTUD2), Truncated

Uniprot Id

Q15029

Target Species

Human

Target Name

EFTUD2

Target Full Name

116 kDa U5 small nuclear ribonucleoprotein component

Target Function

Required for pre-mRNA splicing as component of the spliceosome, including pre-catalytic, catalytic and post-catalytic spliceosomal complexes. Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome.

Target Involvement

Mandibulofacial dysostosis with microcephaly (MFDM)

Target Subcellular Location

Nucleus.

Target Protein Families

TRAFAC class translation factor GTPase superfamily, Classic translation factor GTPase family, EF-G/EF-2 subfamily

Target Synonyms

116 kDa; 116 kDa U5 small nuclear ribonucleoprotein component; EFTUD2; Elongation factor Tu GTP binding domain containing 2; Elongation factor Tu GTP-binding domain-containing protein 2; hSNU114; MFDGA; MFDM; SNRNP116; Snrp116; Snu114; SNU114 homolog; U5 116KD; U5 small nuclear ribonucleoprotein component; U5 snRNP specific protein, 116 kD; U5 snRNP specific protein, 116 kDa; U5 snRNP-specific protein; U5-116 kDa; U5-116KD; U5S1_HUMAN

Target Background

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.