116 kDa U5 small nuclear ribonucleoprotein component is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respon ...
that in humans is encoded by the ''EFTUD2''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
Disease associations
Heterozygous loss-of-function mutations in ''EFTUD2'' cause Mandibulofacial Dysostosis with Microcephaly (MFDM; OMI
#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
WD repeat domain 57 (U5 snRNP specific), also known as WDR57, is a gene found in many organisms, including, but not limited to Homo sapiens, Gallus gallus, Pan troglodytes, Canus familiaris, Bos taurus, Mus musculus, and Rattus norvegicus.
F ...
and
PRPF8
Pre-mRNA-processing-splicing factor 8 is a protein that in humans is encoded by the ''PRPF8'' gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''ge ...
.
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References
Further reading
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