SNRPN

Description

The SNRPN (small nuclear ribonucleoprotein polypeptide N) is a protein-coding gene located on chromosome 15.

SNRPN encodes a protein that is part of a small nuclear ribonucleoprotein (snRNP) complex, specifically belonging to the snRNP SMB/SMN family. This complex is involved in pre-mRNA processing, possibly contributing to tissue-specific alternative splicing events. While the exact function of SNRPN within this complex is unknown, its role in pre-mRNA processing is significant. SNRPN is encoded by a bicistronic transcript that also encodes a protein called SNURF. The gene has multiple transcription initiation sites and undergoes extensive alternative splicing in its 5' untranslated region (UTR). The 5' UTR of SNRPN has been identified as an imprinting center. Disruptions in this paternally-expressed region, such as alternative splicing or deletions caused by translocations, can lead to Prader-Willi syndrome due to a failure of parental imprinting. SNRPN methylation is used to detect uniparental disomy of chromosome 15.

SNRPN may play a role in tissue-specific RNA splicing events.

SNRPN is also known as HCERN3, PWCR, RT-LI, SM-D, SMN, SNRNP-N, SNURF-SNRPN, sm-N.

Associated Diseases

• Angelman syndrome
• Autism susceptibility 1
• Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
• Prader-Willi syndrome due to translocation
• Prader-Willi syndrome due to imprinting mutation
• Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
• Angelman syndrome due to imprinting defect in 15q11-q13
• Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15