3JCR934320624ENSG00000108883ENSMUSG00000020929Q15029O08810NM_001142605NM_001258353NM_001258354NM_004247NM_001109995NM_011431NP_001136077NP_001245282NP_001245283NP_004238NP_001103465NP_035561116 kDa U5 small nuclear ribonucleoprotein component is a protein that in humans is encoded by the EFTUD2 gene.

[5][6] Heterozygous loss-of-function mutations in EFTUD2 cause Mandibulofacial Dysostosis with Microcephaly (MFDM; OMIM #610536),[7] 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.

EFTUD2 has been shown to interact with WDR57[8][9] and PRPF8.

[9] This article on a gene on human chromosome 17 is a stub.

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