DISEASES

Disease-gene associations mined from literature

Literature associating EFTUD2 and Nager acrofacial dysostosis

EFTUD2 [ENSP00000392094]

116 kDa U5 small nuclear ribonucleoprotein component; Required for pre-mRNA splicing as component of the spliceosome, including pre-catalytic, catalytic and post-catalytic spliceosomal complexes (PubMed:28502770, PubMed:28781166, PubMed:28076346, PubMed:29361316, PubMed:30315277, PubMed:29360106, PubMed:29301961, PubMed:30705154). Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome . ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:28781166, ECO:0000269|PubMed:29301961, ECO:0000269|PubMed:29360106, ECO:0000269|PubMed:29361316,; Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-G/EF-2 subfamily.

Synonyms:  EFTUD2,  EFTUD2p,  hEFTUD2,  K7EIT3,  K7EIV5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM