Small nuclear ribonucleoprotein polypeptide N upstream reading frame protein (SNURF)

The Small nuclear ribonucleoprotein polypeptide N upstream reading frame protein (SNURF) is a small, highly conserved nuclear protein encoded upstream of the SNRPN gene within the Prader–Willi syndrome critical region on chromosome 15q11–q13[1][3]. The SNURF gene is part of a complex locus involved in genomic imprinting, producing bicistronic transcripts that also encode SNRPN, as well as serving as a host for several small nucleolar RNAs (snoRNAs)[1][3]. The locus, and specifically the SNURF gene, is central to establishing parental (paternal) allele-specific gene expression patterns that are crucial for neurodevelopmental processes. Disruptions—such as deletions or failures in imprinting regulation—in this region can cause Prader–Willi or Angelman syndrome[1][3]. SNURF encodes a 71-amino-acid, highly basic (arginine-rich, nuclear-localized) protein, but its precise biochemical role remains unclear[3]. It is not a receptor, enzyme, transporter, or druggable target, and there are no known drugs that interact with it. Common mutations in this region are important diagnostic markers for imprinting disorders affecting neurodevelopment[1][3]. The abbreviation "SNURFL," "Putative SNURF-like protein," or "CXorf19" may refer to predicted or hypothetical homologs but are not established canonical names for a distinct protein-coding gene in humans. There is likely confusion or mislabeling—"SNRPN upstream open reading frame like" does not refer to an established therapeutic target or functional protein; rather, the canonical entry is SNURF[1][3].

Other names

SNURFLPutative SNURF-like proteinCXorf19SNRPN upstream open reading frame like