Also known as MFDGA, MFDM, SNRNP116, Snrp116, Snu114, U5-116KD, elongation factor Tu GTP binding domain containing 2
116 kDa U5 small nuclear ribonucleoprotein component is a protein that in humans is encoded by the EFTUD2 gene.
This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012].
via MyGene.info
116 kDa U5 small nuclear ribonucleoprotein component is a protein that in humans is encoded by the EFTUD2 gene.
== Disease associations ==
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).