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SNRPN small nuclear ribonucleoprotein polypeptide N

Also known as: SMN; PWCR; SM-D; sm-N; RT-LI; HCERN3; SNRNP-N; SNURF-SNRPN

Summary

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]

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-10-26)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-10-26)

ClinGen Genome Curation Page

Genomic context

Location:
15q11.2
Sequence:
Chromosome: 15; NC_000015.10 (24823637..24978723)
Total number of exons:
15

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