NCIt definition : Human SNURF wild-type allele is located in the vicinity of 15q12 and is approximately
45 kb in length. This allele, which encodes SNRPN upstream reading frame protein,
may play a role in brain development. Splice variants or chromosomal translocation
causing deletion of either the 5' untranslated region or the coding region of the
gene is associated with either Angelman syndrome or Prader-Willi syndrome due to parental
imprint switch failure.;
NCIt note : The ORF for SNURF is part of a bicistronic transcript that overlaps with the 3' end
of the SNRPN ORF.;
Semantic type(s)