|Other Names||Small nuclear ribonucleoprotein-associated protein N, snRNP-N, Sm protein D, Sm-D, Sm protein N, Sm-N, SmN, Tissue-specific-splicing protein, SNRPN, HCERN3, SMN|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||May be involved in tissue-specific alternative RNA processing events.|
|Tissue Location||Expressed in brain and lymphoblasts.|
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The protein encoded by this gene is one polypeptide of asmall nuclear ribonucleoprotein complex and belongs to the snRNPSMB/SMN family. The protein plays a role in pre-mRNA processing,possibly tissue-specific alternative splicing events. Althoughindividual snRNPs are believed to recognize specific nucleic acidsequences through RNA-RNA base pairing, the specific role of thisfamily member is unknown. The protein arises from a bicistronictranscript that also encodes a protein identified as the SNRPNupstream reading frame (SNURF). Multiple transcription initiationsites have been identified and extensive alternative splicingoccurs in the 5' untranslated region. Additional splice variantshave been described but sequences for the complete transcripts havenot been determined. The 5' UTR of this gene has been identified asan imprinting center. Alternative splicing or deletion caused by atranslocation event in this paternally-expressed region isresponsible for Angelman syndrome or Prader-Willi syndrome due toparental imprint switch failure.
Benetatos, L., et al. Leuk. Res. 34(2):148-153(2010)Kim, S.J., et al. Am. J. Med. Genet. B Neuropsychiatr. Genet. 147B (7), 1116-1125 (2008) :Horsthemke, B., et al. Am. J. Med. Genet. A 146A (16), 2041-2052 (2008) :Runte, M., et al. Hum. Mol. Genet. 10(23):2687-2700(2001)Kuslich, C.D., et al. Am. J. Hum. Genet. 64(1):70-76(1999)
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