EFTUD2

Required for pre-mRNA splicing as component of the spliceosome, including pre-catalytic, catalytic and post-catalytic spliceosomal complexes (PubMed:25092792, PubMed:28076346, PubMed:28502770, PubMed:28781166, PubMed:29301961, PubMed:29360106, PubMed:29361316, PubMed:30315277, PubMed:30705154). Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome (PubMed:16723661). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable).

Mandibulofacial dysostosis with microcephaly

MFDM

A rare syndrome characterized by progressive microcephaly, midface and malar hypoplasia, micrognathia, microtia, dysplastic ears, preauricular skin tags, significant developmental delay, and speech delay. Many patients have major sequelae, including choanal atresia that results in respiratory difficulties, conductive hearing loss, and cleft palate.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-G/EF-2 subfamily.

• Nucleus

KIAA0031, SNRP116, EFTUD2, 116 kDa U5 small nuclear ribonucleoprotein component, Elongation factor Tu GTP-binding domain-containing protein 2, SNU114 homolog, hSNU114, U5-116 kDa

• entrezGene:9343
• omim:603892
• swissprot:Q15029

Proteins

Metabolism

109436Da