EFTUD2
116 kDa U5 small nuclear ribonucleoprotein component is a protein that in humans is encoded by the EFTUD2 gene.Disease associations
Heterozygous loss-of-function mutations in EFTUD2 cause Mandibulofacial Dysostosis with Microcephaly , a multiple malformation syndrome comprising progressive microcephaly, craniofacial skeletal anomalies, cleft palate, deafness, choanal atresia, small stature, and/or cardiac and thumb anomalies.Interactions
EFTUD2 has been shown to interact with WDR57 and PRPF8.
