SNRPN / Unconjugated /
Product Details
Description | Rabbit Polyclonal to SNRPN. SNRPN(Small Nuclear Ribonucleoprotein Polypeptide N), also called SMN, is a bicistronic imprinted gene that encodes 2 polypeptides, the SmN splicing factor, which is involved in RNA processing, and the SNRPN upstream reading frame (SNURF) polypeptide. The protein encoded by this gene is one polypeptide of a small nuclear ribonucleoprotein complex and belongs to the snRNP SMB/SMN family. SNRPN also encodes a long alternatively spliced transcript containing several small nucleolar RNAs (snoRNAs) and extends downstream to partially overlap the UBE3A gene in the antisense orientation. PWS arises from loss of function of genes in this region expressed exclusively from the paternal chromosome, suggesting that SNRPN may play a role in its etiology. The SNRPN gene is mapped on 15q11.2. Analysis of maternal DNA and of SNRPN cDNA confirmed that the maternal allele is not expressed in fetal brain and heart. Deletions in the transcription unit of the imprinted SNRPN gene occur in patients who have PWS or Angelman syndrome because of a parental imprint switch failure in this chromosomal domain. | |
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Conjugate | Unconjugated | |
Clone | ||
Target Species | Human, Rat | |
Applications | IF, IHC-P, ICC, WB, IHC-Fr | |
Supplier | Biorbyt | |
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About SNRPN
This gene is located within the Prader-Willi Syndrome critical region on chromosome 15 and is imprinted and expressed from the paternal allele. It encodes a component of the small nuclear ribonucleoprotein complex, which functions in pre-mRNA processing and may contribute to tissue-specific alternative splicing. Alternative promoter use and alternative splicing result in a multitude of transcript variants encoding the same protein. Transcript variants that initiate at the CpG island-associated imprinting center may be bicistronic and also encode the SNRPN upstream reading frame protein (SNURF) from an upstream open reading frame. In addition, long spliced transcripts for small nucleolar RNA host gene 14 (SNHG14) may originate from the promoters at this locus and share exons with this gene. Alterations in this region are associated with parental imprint switch failure, which may cause Angelman syndrome or Prader-Willi syndrome. [provided by RefSeq, Mar 2017]
This gene is located within the Prader-Willi Syndrome critical region on chromosome 15 and is imprinted and expressed from the paternal allele. It encodes a component of the small nuclear ribonucleoprotein complex, which functions in pre-mRNA processing and may contribute to tissue-specific alternative splicing. Alternative promoter use and alternative splicing result in a multitude of transcript variants encoding the same protein. Transcript variants that initiate at the CpG island-associated imprinting center may be bicistronic and also encode the SNRPN upstream reading frame protein (SNURF) from an upstream open reading frame. In addition, long spliced transcripts for small nucleolar RNA host gene 14 (SNHG14) may originate from the promoters at this locus and share exons with this gene. Alterations in this region are associated with parental imprint switch failure, which may cause Angelman syndrome or Prader-Willi syndrome. [provided by RefSeq, Mar 2017]
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125 SNRPN antibodies from over 12 suppliers available with over 30 conjugates.