DISEASES

Disease-gene associations mined from literature

Literature associating EFTUD2 and Treacher Collins syndrome

EFTUD2 [ENSP00000392094]

Elongation factor Tu GTP-binding domain-containing protein 2; Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex required for pre-mRNA splicing. Binds GTP; Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-G/EF-2 subfamily.

Synonyms:  EFTUD2,  EFTUD2p,  hEFTUD2,  B3KX19,  EFTUD2-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM