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SNURF encodes a highly basic protein localized to the nucleus. Zusätzlich bieten wir Ihnen SNRPN Upstream Reading Frame Antikörper (8) und SNRPN Upstream Reading Frame Kits (4) und viele weitere Produktgruppen zu diesem Protein an.
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A de novo 6.4 kb deletion at 15q11.2, containing exon 1 of the SNURF (zeige RNF4 Proteine) gene and exon 1 of the shortest isoform of the SNRPN (zeige SNRPN Proteine) gene was identified in a patient with Prader-Willi-like phenotype. DNA methylation (zeige HELLS Proteine) analysis confirmed the paternal origin of the deletion.
significant IGF2 hypermethylation (20 +/- 10 vs. 14 +/- 7%; p<0.05) and SNURF (zeige RNF4 Proteine) hypomethylation (23 +/- 6 vs. 32 6%; p<0.001) was found in Albright's hereditary osteodystrophy patients vs. controls.
The SNURF-SNRPN sense/UBE3A (zeige ube3a Proteine) antisense transcription unit spans more than 460 kb.
Identification of cis (zeige CISH Proteine)- and trans-acting regulatory elements within the endogenous SNURF-SNRPN locus.
the ATG-to-AAG (zeige C16orf35 Proteine) mutation causes a 15-fold or more increase in translation of the downstream ORF in two fusion constructs, and it is likely that similar translational control affects the normal Snurf-Snrpn transcript as well
This gene encodes a highly basic protein localized to the nucleus. The evolutionarily constrained open reading frame is found on a bicistronic transcript which has a downstream ORF encoding the small nuclear ribonucleoprotein polypeptide N. The upstream coding region utilizes the first three exons of the transcript, a region that has been identified as an imprinting center. Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region but the full-length nature of these transcripts has not been determined. An alternate exon has been identified that substitutes for exon 4 and leads to a truncated, monocistronic transcript. Alternative splicing or deletion caused by a translocation event in the 5' UTR or coding region of this gene leads to Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. The function of this protein is not yet known.
SNRPN upstream reading frame
, SNRPN upstream reading frame protein
, small nuclear ribonucleoprotein N