SNRPN upstream reading frame protein (SNURF)

SNRPN upstream reading frame protein (SNURF) is a small, evolutionarily conserved nuclear protein encoded by an upstream open reading frame at the SNURF–SNRPN locus on human chromosome 15 (15q11–q13)[1][3]. The SNURF–SNRPN locus is critical in genomic imprinting and is paternally expressed; it also serves as a host for small nucleolar RNAs (snoRNAs) that are implicated in neural development[1]. SNURF contains a highly basic sequence and a nuclear localization motif, but its precise biochemical function remains unclear[3]. Disruption of the SNURF gene, particularly deletions in exon 1 (imprinting center), is associated with features of Prader-Willi syndrome and Angelman syndrome due to loss of normal epigenetic regulation in the region[1][3]. Although highly important for imprinted gene regulation and implicated in neurodevelopmental syndromes, SNURF itself is not considered a classical therapeutic target (e.g., enzyme, receptor, transporter)[1][3].

Other names

SNRPN upstream open reading frameSNRPN upstream reading frame proteinSNURF protein