Synthesized peptide derived from the Internal region of human Snrp116. Location: 290-370aa.
Alternative Synonym:
MFDM, MFDGA, Snu114, Snrp116, SNRNP116, U5-116KD
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.
