Species Human Entrez 9343 | Human Mouse Ensembl ENSG00000108883 | |
Aliases EFTUD2, MFDGA, MFDM, SNRNP116, Snrp116, Snu114, U5-116KD, elongation factor Tu GTP binding domain containing 2 External IDs MGI: 1336880 HomoloGene: 3133 GeneCards: EFTUD2 | ||
116 kDa U5 small nuclear ribonucleoprotein component is a protein that in humans is encoded by the EFTUD2 gene.
Contents
Disease associations
Heterozygous loss-of-function mutations in EFTUD2 cause Mandibulofacial Dysostosis with Microcephaly (MFDM; OMIM #610536), a multiple malformation syndrome comprising progressive microcephaly (present in all affected individuals), 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.
References
EFTUD2 Wikipedia(Text) CC BY-SA