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SNURF encodes a highly basic protein localized to the nucleus.
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A de novo 6.4 kb deletion at 15q11.2, containing exon 1 of the SNURF gene and exon 1 of the shortest isoform of the SNRPN gene was identified in a patient with Prader-Willi-like phenotype. DNA methylation analysis confirmed the paternal origin of the deletion.
significant IGF2 hypermethylation (20 +/- 10 vs. 14 +/- 7%; p<0.05) and SNURF (zeige RNF4 ELISA Kits) 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 ELISA Kits) antisense transcription unit spans more than 460 kb.
Identification of cis- and trans-acting regulatory elements within the endogenous SNURF-SNRPN locus.
the ATG-to-AAG 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